Cystic fibrosis - Knowledge

1771:, "this medicine represents the single greatest therapeutic advancement in the history of CF, offering a treatment for the underlying cause of the disease that could eventually bring modulator therapy to 90 percent of people with CF." In a clinical trial, participants who were administered the combination drug experienced a subsequent 63% decrease in pulmonary exacerbations and a 41.8 mmol/L decrease in sweat chloride concentration. By mitigating a repertoire of symptoms associated with cystic fibrosis, the combination drug significantly improved quality-of-life metrics among patients with the disease as well. The combination drug is also known to interact with CYP3A inducers, such as carbamazepine used in the treatment of bipolar disorder, causing elexafaftor/ivacaftor/tezacaftor to circulate in the body at decreased concentrations. As such, concurrent use is not recommended. The list price in the US is going to be $ 311,000 per year; however, insurance may cover much of the cost of the drug. 1196:

been posited on how the defects in the protein and cellular function cause the clinical effects. The most current theory suggests that defective ion transport leads to dehydration in the airway epithelia, thickening mucus. In airway epithelial cells, the cilia exist in between the cell's apical surface and mucus in a layer known as airway surface liquid (ASL). The flow of ions from the cell and into this layer is determined by ion channels such as CFTR. CFTR not only allows chloride ions to be drawn from the cell and into the ASL, but it also regulates another channel called ENac, which allows sodium ions to leave the ASL and enter the respiratory epithelium. CFTR normally inhibits this channel, but if the CFTR is defective, then sodium flows freely from the ASL and into the cell.

1865:(BiPAP) ventilators, help prevent low blood oxygen levels during sleep. Non-invasive ventilators may be used during physical therapy to improve sputum clearance. It is not known if this type of therapy has an impact on pulmonary exacerbations or disease progression. It is not known what role non-invasive ventilation therapy has for improving exercise capacity in people with cystic fibrosis. However, the authors noted that "non-invasive ventilation may be a useful adjunct to other airway clearance techniques, particularly in people with cystic fibrosis who have difficulty expectorating sputum". During severe illness, a tube may be placed in the throat (a procedure known as a 523:, formula, and later, solid foods. This absorption is impaired in some CF patients. Young children are especially sensitive to vitamin K malabsorptive disorders because only a very small amount of vitamin K crosses the placenta, leaving the child with very low reserves and limited ability to absorb vitamin K from dietary sources after birth. Because clotting factors II, VII, IX, and X are vitamin K–dependent, low levels of vitamin K can result in coagulation problems. Consequently, when a child presents with unexplained bruising, a coagulation evaluation may be warranted to determine whether an underlying disease is present. 532: 1496:

techniques are ergonomic principles, pursed lip breathing, and diaphragmatic breathing. People with CF tend to have fatigue and dyspnoea due to chronic pulmonary infections, so reducing the amount of energy spent during activities can help people feel better and gain more independence. At best, current treatments delay the decline in organ function. Because of the wide variation in disease symptoms, treatment typically occurs at specialist multidisciplinary centers and is tailored to the individual. Targets for therapy are the lungs, gastrointestinal tract (including pancreatic enzyme supplements), the

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expression is needed. Multiple approaches have been tested for gene transfer, such as liposomes and viral vectors in animal models and clinical trials. However, both methods were found to be relatively inefficient treatment options, mainly because very few cells take up the vector and express the gene, so the treatment has little effect. Additionally, problems have been noted in cDNA recombination, such that the gene introduced by the treatment is rendered unusable. There has been a functional repair in culture of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.

2480:, to target and destroy harmful bacteria in the body. Unlike antibiotics, which can kill a wide range of bacteria and potentially disrupt the body's normal flora, phage therapy is highly specific, targeting only the harmful bacteria while leaving the beneficial ones unharmed. As such, the bacteriophage therapy makes is a promising alternative for treating infections caused by multidrug-resistant bacteria, such as Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa in CF patients, which are often protected by biofilms and thus resistant to conventional antibiotics. 2047:

men. In Canada, median survival increased from 24 years in 1982 to 47.7 in 2007. In the United States those born with CF in 2016 have a predicted life expectancy of 47.7 when cared for in specialty clinics. Due to the recent development of new treatments, such as CFTR modulators, life expectancy has increased rapidly during recent years. In 2020 the median predicted life expectancy was around 59 years, although there are uncertainties in the estimates due to the low number of annual deaths for persons with cystic fibrosis.

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itself is usually unaffected. This is contrary to the more common mutations such as ΔF508 which have normal CFTR expression but in a non-functional form. Modulators serve only to correct these aberrant proteins and are of little to no benefit in the case of insufficient expression. Antisense oligonucleotides (ASOs) can solve this problem through the promotion of mRNA degradation or by changing pre-mRNA splicing, nonsense-mediated mRNA decay, or translation, thus increasing CFTR expression.

792:/ΔF508). It occurs in 10–15% of patients with one "severe" and one "mild" CFTR mutation where little CFTR activity still occurs, or where two "mild" CFTR mutations exist. In these milder cases, sufficient pancreatic exocrine function is still present so that enzyme supplementation is not required. Usually, no other GI complications occur in pancreas-sufficient phenotypes, and in general, such individuals usually have excellent growth and development. Despite this, idiopathic 1108: 1091:. The disease appears only when two of these carriers have children, as each pregnancy between them has a 25% chance of producing a child with the disease. Although only about one of every 3,000 newborns of the affected ancestry has CF, since the CFTR gene's discovery in 1989, over 2,000 variants have been identified, but only about 700 of these have been recognized as responsible for causing CF. Current tests look for the most common mutations. 378: 2301: 42: 943: 1176:. This channel is primarily responsible for controlling the movement of halide anions from inside to outside of the cell; however, in the sweat ducts, it facilitates the movement of chloride from the sweat duct into the cytoplasm. When the CFTR protein does not resorb ions in sweat ducts, chloride, and thiocyanate released from sweat glands are trapped inside the ducts and pumped to the skin. 1716:, which breaks down DNA in the sputum, thus decreasing its viscosity. Dornase alpha improves lung function and probably decreases the risk of exacerbations but there is insufficient evidence to know if it is more or less effective than other similar medications. Dornase alpha may improve lung function; however, there is no strong evidence that it is better than other hyperosmolar therapies. 1277:) was not sterilized between individual patients. This led to transmission of more dangerous strains of bacteria among groups of patients. As a result, individuals with CF are now routinely isolated from one another in the healthcare setting, and healthcare providers are encouraged to wear gowns and gloves when examining patients with CF to limit the spread of virulent bacterial strains. 2038:

obstruction, reduce other CF symptoms, and improve the quality of life. While stool softeners, laxatives, and prokinetics (GI-focused treatments) are often suggested, there is no clear consensus from experts at to which approach is the best and comes with the least risks. Mucolytics or systemic treatments aimed at dysfunctional CFTR are also sometimes suggested to improve symptoms.

1912: 1658:(MRSA) infections can be dangerous for people with cystic fibrosis and can worsen lung damage leading to more rapid decline. Early treatment with antibiotics is standard; however, further research is needed to determine longer term effects and benefits (3–6 months after the treatment or longer) and survival rates associated with different treatment options. 1767:, marketed as Trikafta,was approved for CF patients over the age of 12 in the United States. In 2021, this was extended to include patients over the age of 6. In Europe this drug was approved in 2020 and marketed as Kaftrio. It is used in those that have a f508del mutation, which occurs in about 90% of patients with cystic fibrosis. According to the 690:), and other digestive issues may arise due to mucus accumulation in the pancreas. Consequently, there is impaired insulin production, leading to cystic fibrosis-related diabetes mellitus. Moreover, enzyme transport disruption from the pancreas to the intestines results in digestive problems such as recurrent diarrhea or weight loss. 926:. Many men found to have congenital absence of the vas deferens during evaluation for infertility have a mild, previously undiagnosed form of CF. While females with CF are generally fertile, around 20% of women with CF have fertility difficulties due to thickened cervical mucus or malnutrition. In severe cases, malnutrition disrupts 2504:

membrane, and these types of drugs help open up the channel to allow transmembrane flow. Correctors are meant to assist in the transportation of nascent proteins, a protein that is formed by ribosomes before it is morphed into a specific shape, to the cell surface to be implemented into the cell membrane.

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It has previously been shown that inter-species interactions are an important contributor to the pathology of CF lung infections. Examples include the production of antibiotic degrading enzymes such as β-lactamases and the production of metabolic by-products such as short-chain fatty acids (SCFAs) by

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Cystic fibrosis is diagnosed equally in males and females. For reasons that remain unclear, data have shown that males tend to have a longer life expectancy than females, though recent studies suggest this gender gap may no longer exist, perhaps due to improvements in health care facilities. A recent

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Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European heritage. In the United States, about 30,000 individuals have CF; most are diagnosed by six months of age. In Canada, about 4,000 people have CF. Around 1 in 25 people of European descent, and one in

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Problems with the gastrointestinal system including constipation and obstruction of the gastrointestinal tract including distal intestinal obstruction syndrome are frequent complications for people with cystic fibrosis. Treatment of gastrointestinal problems is required in order to prevent a complete

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is often given for months at a time to improve lung function by impeding the growth of colonized bacteria. Inhaled antibiotic therapy helps lung function by fighting infection, but also has significant drawbacks such as development of antibiotic resistance, tinnitus, and changes in the voice. Inhaled

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Diagnosis of CF is initially based on clinical findings indicative of respiratory diseases, various digestive problems, meconium ileus, and more. Definitive diagnosis may involve genetic testing based on family history or chloride concentration testing in sweat, which is relatively high (>60mEq/L)

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Most of the damage in CF is due to blockage of the narrow passages of affected organs with thickened secretions. These blockages lead to remodeling and infection in the lung, damage by accumulated digestive enzymes in the pancreas, blockage of the intestines by thick feces, etc. Several theories have

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gene into the affected epithelial cells would result in the production of functional CFTR protein in all target cells, without adverse reactions or an inflammation response; this is known as the somatic cell therapy. To prevent the lung manifestations of CF, only 5–10% the normal amount of CFTR gene

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According to Schmitz and Goldbeck (2006), CF significantly increases emotional stress on both the individual and the family, "and the necessary time-consuming daily treatment routine may have further negative effects on quality of life". However, Havermans and colleagues (2006) have established that

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is ended prematurely. Other mutations produce proteins that do not use energy (in the form of ATP) normally, do not allow chloride, iodide, and thiocyanate to cross the membrane appropriately, and degrade at a faster rate than normal. Mutations may also lead to fewer copies of the CFTR protein being

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Liver diseases are another common complication in CF patients. The prevalence observed in studies ranged from 18% at age two to 41% at age 12, with no significant increase thereafter. Another study found that males with CF are more prone to liver diseases compared to females, and those with meconium

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states, "In the European Union, one in 2000–3000 newborns is found to be affected by CF". In the United States, one in 3,500 children is born with CF. In 1997, about one in 3,300 white children in the United States was born with CF. In contrast, only one in 15,000 African American children have it,

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Another technique is positive expiratory pressure physiotherapy that consists of providing a back pressure to the airways during expiration. This effect is provided by devices that consists of a mask or a mouthpiece in which a resistance is applied only on the expiration phase. Operating principles

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suppress infection. The choice of antibiotics for cystic fibrosis depends on the specific bacteria that are causing the infection, as well as the patient's age, weight, and other medical conditions. Antibiotics are absolutely necessary whenever pneumonia is suspected or a noticeable decline in lung

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gene mutation carrier, the other parent is tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations. As of 2016, typically only the most common mutations are tested for, such as ΔF508. Most commercially available tests look for 32 or

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to cross into the cell. Sodium is the most common cation in the extracellular space. The excess chloride within sweat ducts prevents sodium resorption by epithelial sodium channels and the combination of sodium and chloride creates the salt, which is lost in high amounts in the sweat of individuals

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was approved in the United States in 2019 for cystic fibrosis. This combination of previously developed medicines is able to treat up to 90% of people with cystic fibrosis. This medications restores some effectiveness of the CFTR protein so that it can work as an ion channel on the cell's surface.

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in position 542 being replaced by a stop codon. Aminoglycoside antibiotics interfere with protein synthesis and error-correction. In some cases, they can cause the cell to overcome a premature stop codon by inserting a random amino acid, thereby allowing expression of a full-length protein. Future

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have been used in place of other types of genetic therapies. These therapies focus on the expression of a genetic mutation instead of the mutated gene itself. Modulators are split into two classes: potentiators and correctors. Potentiators act on the CFTR ion channels that are embedded in the cell

2358:. She was the first to describe the characteristic cystic fibrosis of the pancreas and to correlate it with the lung and intestinal disease prominent in CF. She also first hypothesized that CF was a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952, 2311:

CF is supposed to have appeared about 3,000 BC because of migration of peoples, gene mutations, and new conditions in nourishment. Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier. Indeed, literature from Germany and

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Furthermore, there are many ways to enhance the quality of life in CF patients. Exercise is promoted to increase lung function. Integrating an exercise regimen into the CF patient's daily routine can significantly improve quality of life. No definitive cure for CF is known, but diverse medications

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is a medication taken by mouth for the treatment of CF due to a number of specific mutations responsive to ivacaftor-induced CFTR protein enhancement. It improves lung function by about 10%; however, as of 2014 it is expensive. The first year it was on the market, the list price was over $ 300,000

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therapy. Antibiotic adjuvant therapy refers to therapeutic approaches that aim to improve the action of antibiotics such a pharmaceutical agents or supplements that impact the virulence of the bacterium or that change the susceptibility of the organism to the antibiotic so that the antibiotics are

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gene regulates the transport of salts and water through cell membranes, providing instructions for creating a pathway that allows the passage of chloride ions. A mutation in the CFTR gene can impair the normal function of chloride channels, leading to abnormal transport of chloride ions and water,

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O and Cl ions in and out of cells inside the lungs. When the CFTR protein is working correctly, ions freely flow in and out of the cells. However, when the CFTR protein is malfunctioning, these ions cannot flow out of the cell due to a blocked channel. This causes cystic fibrosis, characterized by

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The prognosis for cystic fibrosis has improved due to earlier diagnosis through screening and better treatment and access to health care. In 1959, the median age of survival of children with CF in the United States was six months. In 2010, survival is estimated to be 37 years for women and 40 for

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decline. Although single lung transplantation is possible in other diseases, individuals with CF must have both lungs replaced because the remaining lung might contain bacteria that could infect the transplanted lung. A pancreatic or liver transplant may be performed at the same time to alleviate

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Treatment for CF is diverse, tailored to different symptoms, and includes various devices, inhalation medications to alleviate respiratory difficulties, oral enzyme supplements to address exocrine pancreatic insufficiency, and, in some cases, surgical interventions for conditions such as meconium

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The management of CF has improved significantly over the past 70 years. While infants born with it 70 years ago would have been unlikely to live beyond their first year, infants today are likely to live well into adulthood. Advances in the treatment of cystic fibrosis have meant that people with

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are encountered in patients almost exclusively in the context of CF. Defective mucociliary clearance characterizing CF is associated with local immunological disorders. In addition, the prolonged therapy with antibiotics and the use of corticosteroid treatments may also facilitate fungal growth.

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As water follows sodium, the depth of ASL will be depleted and the cilia will be left in the mucous layer. As cilia cannot effectively move in a thick, viscous environment, mucociliary clearance is deficient and a buildup of mucus occurs, clogging small airways. The accumulation of more viscous,

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In cystic fibrosis there is impaired chloride secretion due to mutation of CFTR. This disrupts the ionic balance, causes impaired bicarbonate secretion, and alters the pH. The pancreatic enzymes that work in a specific pH range cannot act as the chyme is not neutralized by bicarbonate ions. This

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is being researched to treat a subset of mutations which have limited or no response to CFTR modulators. Such mutations fall into two classes: splicing (e.g., c.3718-2477C>T) and nonsense (e.g., G542X, W1282X), both of which result in very low expression of CFTR protein, although the protein

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Newborns with intestinal obstruction typically require surgery, whereas adults with distal intestinal obstruction syndrome typically do not. Treatment of pancreatic insufficiency by replacement of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins that would

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is dysfunctional; the person is then diagnosed with cystic fibrosis. Genetic testing is also available to identify the CFTR mutations typically associated with cystic fibrosis. Many laboratories can test for the 30–96 most common CFTR mutations, which can identify over 90% of people with cystic

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that are difficult for immune cells and antibiotics to penetrate. Viscous secretions and persistent respiratory infections repeatedly damage the lung by gradually remodeling the airways, which makes infection even more difficult to eradicate. The natural history of CF lung infections and airway

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Chronic illnesses can be difficult to manage. CF is a chronic illness that affects the "digestive and respiratory tracts resulting in generalized malnutrition and chronic respiratory infections". The thick secretions clog the airways in the lungs, which often cause inflammation and severe lung

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as a management of CF continues throughout a person's life, and is aimed at maximizing organ function, and therefore the quality of life. Occupational therapists use energy conservation techniques in the rehabilitation process for patients with cystic fibrosis. Examples of energy conservation

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research for these modulators is focused on the cellular targets that can be effected by a change in a gene's expression. Otherwise, genetic therapy will be used as a treatment when modulator therapies do not work given that 10% of people with cystic fibrosis are not affected by these drugs.

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Although the clinical relevance of the fungal airway colonization is still a matter of debate, filamentous fungi may contribute to the local inflammatory response and therefore to the progressive deterioration of the lung function, as often happens with allergic bronchopulmonary aspergillosis

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The lungs of individuals with cystic fibrosis are colonized and infected by bacteria from an early age. These bacteria, which often spread among individuals with CF, thrive in the altered mucus, which collects in the small airways of the lungs. This mucus leads to the formation of bacterial

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Sinus infections are treated by prolonged courses of antibiotics. The development of nasal polyps or other chronic changes within the nasal passages may severely limit airflow through the nose, and over time reduce the person's sense of smell. Sinus surgery is often used to alleviate nasal

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in people with cystic fibrosis, it is still unclear whether the choice of antibiotics should be based on the results of testing antibiotics separately (one at a time) or in combination with each other. It is also not clear if these treatment approaches for the

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In the pancreatic duct chloride transport occurs through the voltage gated chloride channels which are influenced by CFTR (Cystic Fibrosis transmembrane conductance regulator). These channel are localised in apical membrane of epitheal cell in pancreatic duct.

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Infection can spread by passing between different individuals with CF. In the past, people with CF often participated in summer "CF camps" and other recreational gatherings. Hospitals grouped patients with CF into common areas and routine equipment (such as

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nutrient-rich mucus in the lungs allows bacteria to hide from the body's immune system, causing repeated respiratory infections. The presence of the same CFTR proteins in the pancreatic duct and sweat glands in the skin also cause symptoms in these systems.

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Physical exercise is usually part of outpatient care for people with cystic fibrosis. Aerobic exercise seems to be beneficial for aerobic exercise capacity, lung function and health-related quality of life; however, the quality of the evidence was poor.

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fewer different mutations. If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF.

1474:(PGD) with natural conception (NC) followed by prenatal testing and abortion of affected pregnancies, PGD provides net economic benefits up to a maternal age around 40 years, after which NC, prenatal testing, and abortion have higher economic benefit. 2050:

In the US, of those with CF who are more than 18 years old as of 2009, 92% had graduated from high school, 67% had at least some college education, 15% were disabled, 9% were unemployed, 56% were single, and 39% were married or living with a partner.

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The mutant alleles screened by the test vary according to a person's ethnic group or by the occurrence of CF already in the family. More than 10 million Americans, including one in 25 white Americans, are carriers of one mutant allele of the CF gene.

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The distribution of CF alleles varies among populations. The frequency of ΔF508 carriers has been estimated at one in 200 in northern Sweden, one in 143 in Lithuanians, and one in 38 in Denmark. No ΔF508 carriers were found among 171 Finns and 151

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The ΔF508 mutation is estimated to have occurred up to 52,000 years ago. Numerous hypotheses have been advanced as to why such a lethal allele has persisted and spread in the human population. Other common autosomal recessive diseases such as

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young outpatients with CF who have participated in the Cystic Fibrosis Questionnaire-Revised "rated some quality of life domains higher than did their parents". Consequently, outpatients with CF have a more positive outlook for themselves. As

158: 484:. Breathing problems make it increasingly challenging to exercise, and prolonged illness causes those affected to be underweight for their age. In late adolescence or adulthood, people begin to develop severe signs of lung disease: wheezing, 304:. The sweat test measures sodium concentration, as people with cystic fibrosis have abnormally salty sweat, which can often be tasted by parents kissing their children. Screening of infants at birth takes place in some areas of the world. 1879:

Some lung infections require surgical removal of the infected part of the lung. If this is necessary many times, lung function is severely reduced. The most effective treatment options for people with CF who have spontaneous or recurrent

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deficiency and cystic fibrosis, there is evidence that vitamin E supplementation may improve vitamin E levels, although it is still uncertain what effect supplementation has on vitamin E-specific deficiency disorders or on lung function.

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in one or both mannan-binding lectin alleles that result in lower circulating levels of the protein are associated with a threefold higher risk of end-stage lung disease, as well as an increased burden of chronic bacterial infections.

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Infertility affects both men and women. At least 97% of men with cystic fibrosis are infertile, but not sterile, and can have children with assisted reproductive techniques. The main cause of infertility in men with cystic fibrosis is

1519:, and oral antibiotics are used to treat chronic and acute infections. Mechanical devices and inhalation medications are used to alter and clear the thickened mucus. These therapies, while effective, can be extremely time-consuming. 2451:

has been explored as a potential cure for CF. Results from clinical trials have shown limited success as of 2016, and using gene therapy as routine therapy is not suggested. A small study published in 2015 found a small benefit.

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gene can occur, and different mutations cause different defects in the CFTR protein, sometimes causing a milder or more severe disease. These protein defects are also targets for drugs which can sometimes restore their function.

2682:/liter. Those with less than 30 millimoles/liter sweat chloride are unlikely to develop cystic fibrosis. For people with intermediate sweat chloride between 30 and 59 millimoles/liter, they recommend additional genetic testing. 11640:

Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD (November 2002). "Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis".

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in adults with cystic fibrosis has been conducted. This is likely because the vast majority of people with cystic fibrosis do not live long enough to develop clinically significant atherosclerosis or coronary heart disease.

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infection is usually suggested using nebulised antibiotics with or without oral antibiotics to remove the bacteria from the person's airways for a period of time. When choosing antibiotics to treat lung infections caused by

1527:, which are thought to be able to correct intestinal dysbiosis and inflammation, but the clinical trial evidence regarding the effectiveness of probiotics for reducing pulmonary exacerbations in people with CF is uncertain. 6882: 7752: 1903:, "bilateral lung transplantation for severe lung disease is becoming more routine and more successful with experience and improved techniques. Among adults with CF, median survival posttransplant is about 9 years." 6217: 2068:

notes, "with appropriate support, most patients can make an age-appropriate adjustment at home and school. Despite myriad problems, the educational, occupational, and marital successes of patients are impressive."

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Pankhurst CL, Philpott-Howard J (April 1996). "The environmental risk factors associated with medical and dental equipment in the transmission of Burkholderia (Pseudomonas) cepacia in cystic fibrosis patients".

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liver disease and/or diabetes. Lung transplantation is considered when lung function declines to the point where assistance from mechanical devices is required or someone's survival is threatened. According to

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Groth S, Stafanger G, Dirksen H, Andersen JB, Falk M, Kelstrup M (July 1985). "Positive expiratory pressure (PEP-mask) physiotherapy improves ventilation and reduces volume of trapped gas in cystic fibrosis".

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function is seen, and are usually chosen based on the results of a sputum analysis and the person's past response. This prolonged therapy often necessitates hospitalization and insertion of a more permanent

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gene mutations to determine the risk that their child will be born with CF. Testing is typically performed first on one or both parents and, if the risk of CF is high, testing on the fetus is performed. The

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recommends a diagnosis of cystic fibrosis for anyone suspected of cystic fibrosis (positive newborn screen, symptoms of cystic fibrosis, or a family history of cystic fibrosis) with sweat chloride above 60

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Hardin DS, Rice J, Ahn C, Ferkol T, Howenstine M, Spears S, et al. (March 2005). "Growth hormone treatment enhances nutrition and growth in children with cystic fibrosis receiving enteral nutrition".

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are used, such as mucolytics, bronchodilators, steroids, and antibiotics, that have the purpose of loosening mucus, expanding airways, decreasing inflammation, and fighting lung infections, respectively.

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Di Sant'Agnese PA, Darling RC, Perera GA, Shea E (November 1953). "Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease".

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Hegarty M, Macdonald J, Watter P, Wilson C (July 2009). "Quality of life in young people with cystic fibrosis: effects of hospitalization, age and gender, and differences in parent/child perceptions".

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can be used to improve the bone mineral density in people with cystic fibrosis, but there are no proof that this reduces fractures or increases survival rates. When taking bisphosphates intravenously,

973:(F) at the 508th position of the protein. This mutant allele is already present in 1 in 20 to 25 people of Northern European ancestry; it accounts for 70% of CF cases worldwide and 90% of cases in the 1838:

where a respiratory therapist percusses an individual's chest by hand several times a day, to loosen up secretions. This "percussive effect" can be administered also through specific devices that use

675:) due to inflammation from chronic sinus infections. Recurrent sinonasal polyps can occur in 10% to 25% of CF patients. These polyps can block the nasal passages and increase breathing difficulties. 379: 10289:

Hytönen M, Patjas M, Vento SI, Kauppi P, Malmberg H, Ylikoski J, et al. (December 2001). "Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland".

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and produce a full-length CFTR protein. About 10% of CF results from a premature stop codon in the DNA, leading to early termination of protein synthesis and truncated proteins. These drugs target

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As lung disease worsens, mechanical breathing support may become necessary. Individuals with CF may need to wear special masks at night to help push air into their lungs. These machines, known as

1850:, and associated clearance mode available in such devices, integrate a cough assistance phase, as well as a vibration phase for dislodging secretions. These are portable and adapted for home use. 11278:

Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. (September 1989). "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA".

2540:. Due to this, it has been suggested that the direct alteration of CF microbial community composition and metabolic function would provide an alternative to traditional antibiotic therapies. 1826:

Various studies have examined the effects of omega-3 fatty acid supplementation for people with cystic fibrosis but the evidence is uncertain whether it has any benefits or adverse effects.

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long. More specifically, the location is between base pair 117,120,016 and 117,308,718 on the long arm of chromosome 7, region 3, band 1, subband 2, represented as 7q31.2. Structurally, the

10857:"Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion" 9616: 354:

ancestry, for whom it affects about 1 out of 3,000 newborns, and among which around 1 out of 25 people is a carrier. It is least common in Africans and Asians, though it does occur in all

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infection improve the person's quality of life or lifespan. The negative side effects of antibiotics for this infection are also not well studied. Intravenous antibiotic therapy to treat

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Havermans T, Vreys M, Proesmans M, De Boeck C (January 2006). "Assessment of agreement between parents and children on health-related quality of life in children with cystic fibrosis".

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Høiby N (June 1995). "Isolation and treatment of cystic fibrosis patients with lung infections caused by Pseudomonas (Burkholderia) cepacia and multiresistant Pseudomonas aeruginosa".

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Flume PA, Mogayzel PJ, Robinson KA, Rosenblatt RL, Quittell L, Marshall BC (August 2010). "Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax".

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Although technically a rare disease, CF is ranked as one of the most widespread life-shortening genetic diseases. It is most common among nations in the Western world. An exception is

1467:). However, chorionic villus sampling has a risk of fetal death of one in 100 and amniocentesis of one in 200; a recent study has indicated this may be much lower, about one in 1,600. 10771:

Alfonso-Sánchez MA, Pérez-Miranda AM, García-Obregón S, Peña JA (June 2010). "An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations".

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Eiberg H, Mohr J, Schmiegelow K, Nielsen LS, Williamson R (October 1985). "Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny".

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McCallum TJ, Milunsky JM, Cunningham DL, Harris DH, Maher TA, Oates RD (October 2000). "Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes".

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Fridell JA, Vianna R, Kwo PY, Howenstine M, Sannuti A, Molleston JP, et al. (October 2005). "Simultaneous liver and pancreas transplantation in patients with cystic fibrosis".

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In many cases, a parent makes the diagnosis because the infant tastes salty. Immunoreactive trypsinogen levels can be increased in individuals who have a single mutated copy of the

1099:, though not as frequently as in white individuals. About one in 46 Hispanic Americans, one in 65 African Americans, and one in 90 Asian Americans carry a mutation of the CF gene. 7741: 1666:

Factors related to the antibiotics use, the chronicity of the disease, and the emergence of resistant bacteria demand more exploration for different strategies such as antibiotic

11836:"The potential of phage therapy in cystic fibrosis: Essential human-bacterial-phage interactions and delivery considerations for use in Pseudomonas aeruginosa-infected airways" 2318:("Woe to the child who tastes salty from a kiss on the forehead, for he is bewitched and soon must die"), recognizing the association between the salt loss in CF and illness. 1920:

otherwise be lost in the feces. However, the best dosage and form of pancreatic enzyme replacement is unclear, as are the risks and long-term effectiveness of this treatment.

1265:

infection in CF. In particular, interleukin 17-mediated immunity plays a double-edged activity during chronic airways infection; on one side, it contributes to the control of

4500:

Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, et al. (November 1994). "Congenital bilateral absence of vas deferens in the absence of cystic fibrosis".

4838:

Edwards QT, Seibert D, Macri C, Covington C, Tilghman J (November 2004). "Assessing ethnicity in preconception counseling: genetics--what nurse practitioners need to know".

6125:

Hoch H, Sontag MK, Scarbro S, Juarez-Colunga E, McLean C, Kempe A, et al. (November 2018). "Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012".

1726:

are useful is unclear, but stopping inhaled corticosteroid therapy is safe. There is weak evidence that corticosteroid treatment may cause harm by interfering with growth.

11383:

Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. (September 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping".

6465:"Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019" 961:). As of 2018, over 1,900 mutations leading to CF have been described, but only 5 of them have a frequency greater than 1% among patients. The most common mutant allele, 439:. Children with cystic fibrosis lose excessive salt in their sweat, and parents often notice salt crystallizing on the skin, or a salty taste when they kiss their child. 12998: 9691: 2029:

Due to the use of aminoglycoside antibiotics, ototoxicity is common. Symptoms may include "tinnitus, hearing loss, hyperacusis, aural fullness, dizziness, and vertigo".

10728:

Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ (October 1994). "Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model".

7442:

Kellerman D, Rossi Mospan A, Engels J, Schaberg A, Gorden J, Smiley L (August 2008). "Denufosol: a review of studies with inhaled P2Y(2) agonists that led to Phase 3".

8093: 6209: 6874: 1692: 2572: 12573: 788:

occurs in the majority (85–90%) of patients with CF. It is mainly associated with "severe" CFTR mutations, where both alleles are completely nonfunctional (e.g.

12295:"Production of extended-spectrum β-lactamases and the potential indirect pathogenic role of Prevotella isolates from the cystic fibrosis respiratory microbiota" 4134:

Lamireau T, Monnereau S, Martin S, Marcotte JE, Winnock M, Alvarez F (December 2004). "Epidemiology of liver disease in cystic fibrosis: a longitudinal study".

721:

are totally plugged in more advanced cases, usually seen in older children or adolescents. This causes atrophy of the exocrine glands and progressive fibrosis.

5078:

Childers M, Eckel G, Himmel A, Caldwell J (2007). "A new model of cystic fibrosis pathology: lack of transport of glutathione and its thiocyanate conjugates".

3430: 977:; however, over 700 other mutant alleles, some of which represent new mutations, can produce CF. Although most people have two working copies (alleles) of the 10904:

Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, et al. (May 1998). "Salmonella typhi uses CFTR to enter intestinal epithelial cells".

6317:

Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, et al. (November 2006). "Pregnancy loss rates after midtrimester amniocentesis".

6274:

Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B (June 1986). "Randomised controlled trial of genetic amniocentesis in 4606 low-risk women".

2483:

Bacteriophage therapy uses viruses as antimicrobial agents to overcome the antibiotic resistance in bacteria with biofilms Phage therapy is used to treat the

13883: 2269:: Another possible explanation is that carriers of the mutant allele could have some resistance to tuberculosis. This hypothesis is based on the thesis that 1016:. The product of this gene (the CFTR protein) is a chloride ion channel important in creating sweat, digestive juices, and mucus. This protein possesses two 982: 10640:

Kere J, Savilahti E, Norio R, Estivill X, de la Chapelle A (September 1990). "Cystic fibrosis mutation delta F508 in Finland: other mutations predominate".

14705: 14386: 1441: 1389:

into the skin, stimulating sweating. The sweat is collected and analyzed for salt levels. Having unusually high levels of chloride in the sweat suggests

289: 5701:"Identification of airborne dissemination of epidemic multiresistant strains of Pseudomonas aeruginosa at a CF centre during a cross infection outbreak" 2487:

infection in the lungs, which is frequently seen in cystic fibrosis patients, as these bacteria produce biofilms which give them multi-drug resistance.

1217:

Over time, both the types of bacteria and their individual characteristics change in individuals with CF. In the initial stage, common bacteria such as

11593:"Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial" 7766: 2424:

that discovered the gene responsible for CF. CF represents a classic example of how a human genetic disorder was elucidated strictly by the process of

2010:, collecting sperm cells directly from the testicles. If the collected sample contains too few sperm cells to likely have a spontaneous fertilization, 1507:

The most consistent aspect of therapy in CF is limiting and treating the lung damage caused by thick mucus and infection, with the goal of maintaining

1214:

remodeling is poorly understood, largely due to the immense spatial and temporal heterogeneity both within and between the microbiomes of CF patients.

7710: 2160:

gene. Ireland has the world's highest prevalence of CF, at one in 1353; Japan's prevalence of CF is among the lowest in the world, at one in 350,000.

981:

gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein. Thus, CF is considered an

796:

can occur in a subset of pancreas-sufficient individuals with CF, and is associated with recurrent abdominal pain and life-threatening complications.

10591: 2507:

Most target the transcription stage of genetic expression. One approach has been to try and develop medication that get the ribosome to overcome the

1976:

such as pain and flu-like symptoms can be an issue. The adverse effects of bisphosphates taken by mouth on the gastrointestinal tract are not known.

1605:

Currently, no reliable clinical trial evidence shows the effectiveness of antibiotics for pulmonary exacerbations in people with cystic fibrosis and

10389: 9721:"Innate lung defenses and compromised Pseudomonas aeruginosa clearance in the malnourished mouse model of respiratory infections in cystic fibrosis" 2245:

study has yet confirmed this. In both cases, the low level of cystic fibrosis outside of Europe, in places where both cholera and typhoid fever are

11476: 10099: 9623: 2255:: The prevalence of CF in Europe might be connected with the development of cattle domestication. In this hypothesis, carriers of a single mutant 1377:. Newborns with positive tests or those who are otherwise suspected of having cystic fibrosis based on symptoms or family history, then undergo a 686:

Digestive problems are also prevalent in individuals with CF. Approximately 15%-20% of newborns diagnosed with CF experience intestinal blockage (

362:

in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name "cystic fibrosis" refers to the characteristic

13955: 13931: 12617: 8679:

Huth MM, Zink KA, Van Horn NR (2005). "The effects of massage therapy in improving outcomes for youth with cystic fibrosis: an evidence review".

2060:

infections. If it is compromised, it affects the quality of life of someone with CF and their ability to complete such tasks as everyday chores.

1834:

Several mechanical techniques are used to dislodge sputum and encourage its expectoration. One technique good for short-term airway clearance is

667:

is equally thick and may also cause blockage of the sinus passages, leading to infection. This may cause facial pain, fever, nasal drainage, and

12391: 7869: 7843: 14578: 13806: 10328: 10139:

Rosenstein BJ, Cutting GR (April 1998). "The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel".

2476:) is being studied for multidrug resistant bacteria in people with CF. Bacteriophage therapy is a treatment method that uses viruses, known as 14830: 14806: 13462: 9533:"Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: survival analysis of the Cystic Fibrosis Foundation patient registry" 2295: 2281:

would use its host's sources to affect the individual, and due to the lack of enzyme it could not presents its virulence, being a carrier of

1938:

is the most common nonpulmonary complication of CF. It mixes features of type 1 and type 2 diabetes, and is recognized as a distinct entity,

1423:

By 2010 every US state had instituted newborn screening programs and as of 2016 21 European countries had programs in at least some regions.

12246: 9580: 8484:

Andersen JB, Qvist J, Kann T (October 1979). "Recruiting collapsed lung through collateral channels with positive end-expiratory pressure".

7895: 7818: 7162:"Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis" 4959:

Linsdell P (January 2006). "Mechanism of chloride permeation in the cystic fibrosis transmembrane conductance regulator chloride channel".

296:

fluids, and mucus. When the CFTR is not functional, secretions that are usually thin instead become thick. The condition is diagnosed by a

7620:"Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: a systematic review and cost-effectiveness analysis" 6906:"Long-term azitromycin treatment of cystic fibrosis patients with chronic Pseudomonas aeruginosa infection; an observational cohort study" 6239:

Elias S, Annas GJ, Simpson JL (April 1991). "Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice".

5319:

Verkman AS, Song Y, Thiagarajah JR (January 2003). "Role of airway surface liquid and submucosal glands in cystic fibrosis lung disease".

4881:

Graeber SY, Mall MA (September 2023). "The future of cystic fibrosis treatment: from disease mechanisms to novel therapeutic approaches".

14631: 10367: 10085: 4924:

Schwiebert EM, Benos DJ, Egan ME, Stutts MJ, Guggino WB (January 1999). "CFTR is a conductance regulator as well as a chloride channel".

3084: 1652: 1487:

cystic fibrosis can live a fuller life less encumbered by their condition. The cornerstones of management are the proactive treatment of

292:(CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, 7924:"Cystic Fibrosis Foundation statement on FDA approval of Trikafta, the first triple-combination therapy for the most common CF mutation" 2802: 13888: 10216: 10009: 8046:"Elexacaftor-Tezacaftor-Ivacaftor: The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy" 5594: 3349:

Egan ME, Schechter MS, Voynow JA (2020). "Cystic Fibrosis". In Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM (eds.).

3053: 2352:

published an article, "Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study", in the

14617: 13217: 4543:

Gilljam M, Antoniou M, Shin J, Dupuis A, Corey M, Tullis DE (July 2000). "Pregnancy in cystic fibrosis. Fetal and maternal outcome".

4294:

Moran A, Pyzdrowski KL, Weinreb J, Kahn BB, Smith SA, Adams KS, et al. (August 1994). "Insulin sensitivity in cystic fibrosis".

1055:

domain interaction. The majority of CFTR in lung passages is produced by rare ion-transporting cells that regulate mucus properties.

678:

Cardiorespiratory complications are the most common causes of death (about 80%) in patients at most CF centers in the United States.

10121: 11173:

Fanconi G, Uehlinger E, Knauer C (1936). "Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiektasien".

8707: 8119: 6755:"Effect of nebulized colistin sulphate and colistin sulphomethate on lung function in patients with cystic fibrosis: a pilot study" 3298: 3098:

Yankaskas JR, Marshall BC, Sufian B, Simon RH, Rodman D (January 2004). "Cystic fibrosis adult care: consensus conference report".

2354: 2184:. ΔF508 does occur in Finland, but it is a minority allele there. CF is known to occur in only 20 families (pedigrees) in Finland. 858:. Damage to the pancreas can lead to loss of the islet cells, leading to a type of diabetes unique to those with the disease. This 343:

may have some short-term benefit, but long-term effects are unclear. The average life expectancy is between 42 and 50 years in the

12271: 11520: 2941:"Prevalence of antibiotic resistance of Staphylococcus aureus in cystic fibrosis infection: a systematic review and meta-analysis" 1858:

along with a temporary increase in functional residual capacity preventing the early collapse of small airways during exhalation.

411:

Cystic fibrosis typically manifests early in life. Newborns and infants with cystic fibrosis tend to have frequent, large, greasy

14698: 13712: 13241: 13013: 2417: 638: 10446:"17beta-Estradiol inhibits Ca2+-dependent homeostasis of airway surface liquid volume in human cystic fibrosis airway epithelia" 1451:

gene and because CF testing is expensive, testing is often performed initially on one parent. If testing shows that parent is a

15015: 14397: 14294: 9649: 1545: 1013: 899: 775: 637:

In addition to typical bacterial infections, people with CF more commonly develop other types of lung diseases. Among these is

9702: 2220:

alleles benefited from resistance to cholera and other causes of diarrhea. Further studies have not confirmed this hypothesis.

15035: 12988: 10361: 10079: 9862:"The effect of inpatient rehabilitation programmes on quality of life in patients with cystic fibrosis: a multi-center study" 3543: 3358: 3296:

Andersen DH (1938). "Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study".

3078: 3047: 2065: 1898: 1483:

ileus. While treatment alleviates symptoms and prevents potential complications, there is currently no cure for the disease.

7008:"Antibiotic treatment for Burkholderia cepacia complex in people with cystic fibrosis experiencing a pulmonary exacerbation" 14893: 14484: 14347: 11785:"Bacteriophage-based therapy in cystic fibrosis-associated Pseudomonas aeruginosa infections: rationale and current status" 1843: 1402: 9248:"Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection" 8865: 14564: 13674: 13457: 13212: 12610: 12459: 11726: 9587: 5839:"Pathogenesis of allergic bronchopulmonary aspergillosis in cystic fibrosis: current understanding and future directions" 391: 5006:(3rd ed.). Daryaganj, New Delhi, India: Jaypee Brothers Medical Publishers (published July 2023). pp. 643–44. 627:

are the three most common organisms causing lung infections in CF patients. In addition, opportunistic infection due to

14691: 14499: 14248: 14187: 13467: 13263: 11544:"Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease" 7211:"Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis" 5371: 3897: 767: 10955:

Modiano G, Ciminelli BM, Pignatti PF (March 2007). "Cystic fibrosis and lactase persistence: a possible correlation".

6945:

Tan KH, Mulheran M, Knox AJ, Smyth AR (March 2003). "Aminoglycoside prescribing and surveillance in cystic fibrosis".

3954:

Kulczycki LL, Shwachman H (August 1958). "Studies in cystic fibrosis of the pancreas; occurrence of rectal prolapse".

1835: 1164:, lungs, pancreas, and all other remaining exocrine glands in the body. The protein spans this membrane and acts as a 14751: 14282: 13738: 13664: 13444: 12944: 12639: 12634: 7844:"FDA Accepts Vertex Application for Expansion of Trikafta to Include Children ages 6-11 | Cystic Fibrosis Foundation" 5011: 2796: 1471: 785: 5788:"Occurrence and relevance of filamentous fungi in respiratory secretions of patients with cystic fibrosis--a review" 5115:"The antioxidant role of thiocyanate in the pathogenesis of cystic fibrosis and other inflammation-related diseases" 3808:"Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study" 2144:

30 of white Americans, is a carrier of a CF mutation. Although CF is less common in these groups, roughly one in 46

14046: 14041: 10605:

Wennberg C, Kucinskas V (1994). "Low frequency of the delta F508 mutation in Finno-Ugrian and Baltic populations".

7209:

Lo DK, Muhlebach MS, Smyth AR, et al. (Cochrane Cystic Fibrosis and Genetic Disorders Group) (December 2022).

2523: 2011: 1939: 1862: 1764: 1730:

has not been studied as of 2014. As of 2014, there is no clear evidence from randomized controlled trials that the

1501: 859: 602: 10029:"Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil" 8731:"Chemical pleurodesis versus surgical intervention for persistent and recurrent pneumothoraces in cystic fibrosis" 2273:

mutant allele carriers have insufficient action in one of their enzymes – arylsulphatase – which is necessary for

1753:

helps move the CFTR protein to the correct position on the cell surface, and is designed to treat people with the

819:). The liver fails to rid the blood of toxins and does not make important proteins, such as those responsible for 14550: 14545: 14130: 13974: 13408: 1369:

In many localities all newborns are screened for cystic fibrosis within the first few days of life, typically by

763: 12038:

Hanlon GW (August 2007). "Bacteriophages: an appraisal of their role in the treatment of bacterial infections".

11928:"Exploiting lung adaptation and phage steering to clear pan-resistant Pseudomonas aeruginosa infections in vivo" 14658: 14612: 14173: 13969: 13820: 13679: 13145: 12603: 9677: 8001:

Wilkinson GR (October 1996). "Cytochrome P4503A (CYP3A) metabolism: prediction of in vivo activity in humans".

5626:"Acquisition of Pseudomonas cepacia at summer camps for patients with cystic fibrosis. Summer Camp Study Group" 732:) is more common, occurring in as many as 10% of children with CF, and it is caused by increased fecal volume, 9974:

Moorcroft AJ, Dodd ME, Webb AK (1998). "Exercise limitations and training for patients with cystic fibrosis".

6086:"Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years" 2362:

discovered abnormalities in sweat electrolytes; a sweat test was developed and improved over the next decade.

347:, with a median of 40.7 years. Lung problems are responsible for death in 70% of people with cystic fibrosis. 245:. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include 15030: 14889: 14534: 14458: 14361: 13984: 13825: 13763: 13253: 4210:

Williams SG, Westaby D, Tanner MS, Mowat AP (October 1992). "Liver and biliary problems in cystic fibrosis".

1958:

is relatively common in people with cystic fibrosis, the evidence about the effectiveness of antibiotics for

1040: 328: 154: 7774: 966: 14268: 14159: 13926: 13753: 13452: 13403: 13236: 13174: 10033:

Brazilian Journal of Medical and Biological Research = Revista Brasileira de Pesquisas Medicas e Biologicas

7718: 4745:"An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton" 2378: 1955: 1847: 1233: 628: 10583: 2015: 15020: 14540: 14323: 13705: 13413: 10381: 6980: 6168:

Barben J, Castellani C, Dankert-Roelse J, Gartner S, Kashirskaya N, Linnane B, et al. (March 2017).

4169:

Colombo C, Battezzati PM, Crosignani A, Morabito A, Costantini D, Padoan R, et al. (December 2002).

2440:

that allows researchers and doctors to track health results and identify candidates for clinical trials.

2007: 1610: 1488: 881:

regulation. Poor uptake of vitamin D from the diet because of malabsorption can lead to the bone disease

652: 14683: 12559: 12293:

Sherrard LJ, McGrath SJ, McIlreavey L, Hatch J, Wolfgang MC, Muhlebach MS, et al. (February 2016).

11744:"Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients" 10855:

Högenauer C, Santa Ana CA, Porter JL, Millard M, Gelfand A, Rosenblatt RL, et al. (December 2000).

3006: 1671:

more effective. There is no strong evidence to recommend specific antibiotic adjuvant therapies such as

14853: 14588: 13599: 10107: 9698: 7393:

Yang C, Montgomery M, et al. (Cochrane Cystic Fibrosis and Genetic Disorders Group) (March 2021).

6401:"Treatment preference among people with cystic fibrosis: the importance of reducing treatment burden". 2674: 2636: 2389:

on the seventh chromosome. Subsequent research has found over 1,000 different mutations that cause CF.

1768: 1405:

measurements can be helpful. CF can also be diagnosed by identification of mutations in the CFTR gene.

1374: 336: 6843:

Ryan G, Singh M, Dwan K (March 2011). "Inhaled antibiotics for long-term therapy in cystic fibrosis".

6710:

Pai VB, Nahata MC (October 2001). "Efficacy and safety of aerosolized tobramycin in cystic fibrosis".

6170:"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe" 454:. Chronic infection of the respiratory tract is nearly universal in people with cystic fibrosis, with 14985: 14779: 14058: 13472: 13097: 13071: 12796: 12697: 11591:

Alton EW, Armstrong DK, Ashby D, Bayfield KJ, Bilton D, Bloomfield EV, et al. (September 2015).

10324: 6614:"Home Oxygen Therapy for Children. An Official American Thoracic Society Clinical Practice Guideline" 6612:

Hayes D, Wilson KC, Krivchenia K, Hawkins SM, Balfour-Lynn IM, Gozal D, et al. (February 2019).

6362:"A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis" 2329:, a complication of meconium ileus associated with CF. Meconium ileus was first described in 1905 by 2216:

requires normal host CFTR proteins to function properly, it was hypothesized that carriers of mutant

2168: 1460: 1332: 10697: 9609: 7529:

Burgess L, Southern KW (August 2014). Burgess L (ed.). "Pneumococcal vaccines for cystic fibrosis".

7057:"Antibiotic treatment for nontuberculous mycobacteria lung infection in people with cystic fibrosis" 3112: 2205:. Resistance to the following have all been proposed as possible sources of heterozygote advantage: 1722:, an investigational drug, opens an alternative chloride channel, helping to liquefy mucus. Whether 1269:

burden, while on the other, it propagates exacerbated pulmonary neutrophilia and tissue remodeling.

577:. In later stages, changes in the architecture of the lung, such as pathology in the major airways ( 15010: 15005: 14865: 14253: 13248: 13076: 13061: 13054: 12959: 12920: 12867: 12845: 12803: 12731: 12470: 7355:

Lieberman J (July 1968). "Dornase aerosol effect on sputum viscosity in cases of cystic fibrosis".

2349: 2304: 2176:

study from Ireland identified a link between the female hormone estrogen and worse outcomes in CF.

1727: 1492: 1322: 1286: 1096: 867: 863: 476:

are common, particularly in children and teenagers. As the disease progresses, people tend to have

355: 13227: 12344:"Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives" 10444:

Coakley RD, Sun H, Clunes LA, Rasmussen JE, Stackhouse JR, Okada SF, et al. (December 2008).

3246:"Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013" 1253:

can develop special characteristics that allow the formation of large colonies, known as "mucoid"

1145:

normally and is not appropriately transported to the cell membrane, resulting in its degradation.

15025: 14105: 13376: 13018: 12934: 12809: 9591: 7952:

Middleton PG, Mall MA, Dřevínek P, Lands LC, McKone EF, Polineni D, et al. (November 2019).

5172:

Moskwa P, Lorentzen D, Excoffon KJ, Zabner J, McCray PB, Nauseef WM, et al. (January 2007).

2315:"Wehe dem Kind, das beim Kuß auf die Stirn salzig schmeckt, es ist verhext und muss bald sterben" 1723: 1341:– the most common fungal disease in the context of CF, involving a Th2-driven immune response to 497: 9531:

MacKenzie T, Gifford AH, Sabadosa KA, Quinton HB, Knapp EA, Goss CH, et al. (August 2014).

8437:"Positive expiratory pressure physiotherapy for airway clearance in people with cystic fibrosis" 1141:

gene mutation, which occurs in >90% of patients in the U.S., creates a protein that does not

531: 446:

and death in people with cystic fibrosis is progressive lung disease, which eventually leads to

15040: 14905: 13979: 13864: 13698: 13502: 13355: 13316: 13231: 13184: 12883: 12726: 11106:

Tobacman JK (June 2003). "Does deficiency of arylsulfatase B have a role in cystic fibrosis?".

10692: 9441:"Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis" 8665: 6794:

McCoy KS, Quittner AL, Oermann CM, Gibson RL, Retsch-Bogart GZ, Montgomery AB (November 2008).

5900:

Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. (February 2017).

5280:"Airway surface liquid homeostasis in cystic fibrosis: pathophysiology and therapeutic targets" 4171:"Liver disease in cystic fibrosis: A prospective study on incidence, risk factors, and outcome" 4087:"Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis" 3847:

Borowitz D, Durie PR, Clarke LL, Werlin SL, Taylor CJ, Semler J, et al. (September 2005).

3535: 3531: 3107: 2588: 2484: 2359: 2246: 2202: 2198: 1999: 1992: 1928: 1915:

Intracytoplasmic sperm injection can be used to provide fertility for men with cystic fibrosis.

1855: 1839: 1571: 1316: 1227: 1149: 1075: 1024: 623: 617: 606: 586: 554: 540: 456: 450:. This typically begins as a prolonged respiratory infection that continues until treated with 12521: 10351: 10069: 10027:

Araújo FG, Novaes FC, Santos NP, Martins VC, Souza SM, Santos SE, et al. (January 2005).

9388:

Ganesan P, Schmiedge J, Manchaiah V, Swapna S, Dhandayutham S, Kothandaraman PP (April 2018).

7870:"NHS England » Landmark NHS deal to open up access to life-changing cystic fibrosis drug" 5624:

Pegues DA, Carson LA, Tablan OC, FitzSimmons SC, Roman SB, Miller JM, et al. (May 1994).

3068: 14932: 14673: 14513: 12764: 12736: 12174: 11877:"Translating phage therapy into the clinic: Recent accomplishments but continuing challenges" 8813:

Belkin RA, Henig NR, Singer LG, Chaparro C, Rubenstein RC, Xie SX, et al. (March 2006).

7113:"Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis" 5699:

Jones AM, Govan JR, Doherty CJ, Dodd ME, Isalska BJ, Stanbridge TN, et al. (June 2003).

2786: 1973: 1599: 1536: 1447:

Because development of CF in the fetus requires each parent to pass on a mutated copy of the

1246: 1063: 646: 611: 570: 547: 225: 11926:

Ashworth EA, Wright RC, Shears RK, Wong JK, Hassan A, Hall JP, et al. (February 2024).

10236: 10013: 4743:

Short DB, Trotter KW, Reczek D, Kreda SM, Bretscher A, Boucher RC, et al. (July 1998).

4375:

Haworth CS, Selby PL, Webb AK, Dodd ME, Musson H, McL Niven R, et al. (November 1999).

3148:"Airway clearance techniques compared to no airway clearance techniques for cystic fibrosis" 3037: 2455:

The focus of much CF gene therapy research is aimed at trying to place a normal copy of the

1741:

per year in the United States. In July 2015, the U.S. Food and Drug Administration approved

1523:

at home is recommended in those with significant low oxygen levels. Many people with CF use

1444:

recommends all people thinking of becoming pregnant be tested to see if they are a carrier.

1280:

CF patients may also have their airways chronically colonized by filamentous fungi (such as

14928: 14818: 14767: 14079: 13869: 13381: 13333: 13321: 13135: 13093: 12692: 11939: 11742:

Schwank G, Koo BK, Sasselli V, Dekkers JF, Heo I, Demircan T, et al. (December 2013).

11392: 11287: 11070: 10913: 10737: 8715: 8642: 5959:

Minarowski Ł, Sands D, Minarowska A, Karwowska A, Sulewska A, Gacko M, et al. (2008).

5550: 5537:

Tümmler B, Koopmann U, Grothues D, Weissbrodt H, Steinkamp G, von der Hardt H (June 1991).

5493: 5428:

Khanolkar RA, Clark ST, Wang PW, Hwang DM, Yau YC, Waters VJ, et al. (December 2020).

5234: 5126: 4797: 2400:

techniques had been unable to accurately pinpoint the mutated gene. Using protein markers,

2326: 1893: 1774: 1746: 1742: 1310: 969:

signifying deletion) of three nucleotides that results in a loss of the amino-acid residue

847: 793: 561: 324: 162: 12993: 12532: 10536:"Cystic fibrosis-related diabetes: current trends in prevalence, incidence, and mortality" 10176:"Comparison of the clinical manifestations of cystic fibrosis in black and white patients" 10174:

Hamosh A, FitzSimmons SC, Macek M, Knowles MR, Rosenstein BJ, Cutting GR (February 1998).

7618:

Whiting P, Al M, Burgers L, Westwood M, Ryder S, Hoogendoorn M, et al. (March 2014).

2981: 1261:

pathway plays a key role in resistance and modulation of the inflammatory response during

1187:, this modifies the electrical potential inside and outside the cell that normally causes 8: 14967: 14783: 13649: 13616: 13362: 13311: 12939: 12759: 12626: 12448: 10317: 10125: 6084:

Assael BM, Castellani C, Ocampo MB, Iansa P, Callegaro A, Valsecchi MG (September 2002).

5482:"IL-17A impairs host tolerance during airway chronic infection by Pseudomonas aeruginosa" 3652:

Girón RM, Domingo D, Buendía B, Antón E, Ruiz-Velasco LM, Ancochea J (October 2005). "".

3310: 2617: 2322: 2260: 1969: 1797:

supplementation have any effect on eye and skin problems caused by vitamin A deficiency.

1602:, the amount of antibiotics in the blood is routinely measured and adjusted accordingly. 1512: 1497: 1370: 1292: 1173: 923: 477: 447: 340: 332: 281: 246: 212: 109: 70: 12015: 11984: 11960: 11943: 11927: 11903: 11876: 11542:

Lee TW, Southern KW, Perry LA, Penny-Dimri JC, Aslam AA (June 2016). Southern KW (ed.).

11510: 11396: 11291: 11074: 10917: 10741: 8265: 8244: 7137: 7112: 6422:"Pulmonary rehabilitation for cystic fibrosis: A narrative review of current literature" 6202: 5902:"Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation" 5786:

Pihet M, Carrere J, Cimon B, Chabasse D, Delhaes L, Symoens F, et al. (June 2009).

5554: 5497: 5238: 5130: 4801: 4031:"New insights on gastro-oesophageal reflux in cystic fibrosis by longitudinal follow up" 3172: 3147: 2536:

anaerobic species, which can enhance the pathogenicity of traditional pathogens such as

2006:

techniques. Male infertility caused by absence of the vas deferens may be overcome with

1954:, and, unlike in type 1 and 2 diabetes, dietary restrictions are not recommended. While 464:

all increasingly common over time. Inflammation of the upper airway results in frequent

14593: 14583: 14416: 13507: 13372: 13328: 13160: 13081: 13008: 12878: 12368: 12343: 12319: 12294: 12223: 12161: 12136: 12109: 12074: 11811: 11784: 11709: 11666: 11617: 11592: 11568: 11543: 11515: 11457: 11355: 11330: 11311: 11260: 11248: 11217: 11088: 11034: 11009: 10990: 10937: 10881: 10856: 10832: 10807: 10665: 10560: 10535: 10470: 10445: 10421: 10404: 9888: 9861: 9842: 9793: 9557: 9532: 9513: 9465: 9440: 9416: 9389: 9365: 9340: 9313: 9288: 9228: 9144: 9119: 9090: 9065: 9041: 9016: 8916: 8891: 8839: 8815:"Risk factors for death of patients with cystic fibrosis awaiting lung transplantation" 8814: 8791: 8755: 8730: 8619: 8594: 8570: 8545: 8461: 8436: 8412: 8387: 8363: 8338: 8314: 8289: 8220: 8195: 8171: 8146: 8070: 8045: 8026: 7978: 7953: 7692: 7644: 7619: 7590: 7565: 7506: 7481: 7419: 7394: 7337: 7289: 7264: 7235: 7210: 7186: 7161: 7081: 7056: 7032: 7007: 6820: 6796:"Inhaled aztreonam lysine for chronic airway Pseudomonas aeruginosa in cystic fibrosis" 6795: 6735: 6687: 6662: 6638: 6613: 6589: 6564: 6540: 6515: 6491: 6464: 6342: 6330: 6299: 6150: 6061: 6036: 5941: 5725: 5700: 5514: 5481: 5454: 5429: 5344: 5255: 5222: 5198: 5173: 5149: 5114: 5055: 5028: 4984: 4906: 4863: 4851: 4725: 4661: 4636: 4612: 4587: 4568: 4525: 4401: 4376: 4276: 4263: 4246: 4223: 4111: 4086: 4055: 4030: 3865: 3848: 3738:

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for increasing food energy through supplemental feeds or by administration of injected

1892:

Lung transplantation may become necessary for individuals with CF as lung function and

1535:

Many people with CF are on one or more antibiotics at all times, even when healthy, to

1304: 1257:, which are rarely seen in people who do not have CF. Scientific evidence suggests the 65: 12453: 12310: 12051: 11608: 10192: 10175: 10152: 9829: 9812: 9781: 9066:"Antibiotic treatment for Stenotrophomonas maltophilia in people with cystic fibrosis" 6287: 5677: 5641: 5571: 5538: 5403: 4894: 4713: 4513: 3913:

Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS (September 1998).

3665: 3629: 3602: 3387: 2871: 2755: 14763: 14430: 14333: 14258: 14234: 14121: 13629: 12873: 12702: 12663: 12595: 12548: 12481: 12373: 12324: 12215: 12166: 12114: 12055: 12020: 11965: 11908: 11875:

Petrovic Fabijan A, Iredell J, Danis-Wlodarczyk K, Kebriaei R, Abedon ST (May 2023).

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The thick mucus seen in the lungs has a counterpart in thickened secretions from the

598: 432: 420: 351: 316: 262: 223:, which facilitates the colonization and infection of the lungs by bacteria, notably 183: 127: 78: 49: 11713: 11684:

Tate S, Elborn S (March 2005). "Progress towards gene therapy for cystic fibrosis".

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5348: 4988: 4729: 4572: 4529: 4352: 4335: 4280: 3915:"Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis" 3705: 2771: 2373:, indicating that only one locus exists for CF. In 1988, the first mutation for CF, 1412:

gene (carriers) or, in rare instances, in individuals with two normal copies of the

811:, leading to liver damage. Impaired digestion or absorption of lipids can result in 713:

and result in irreversible damage to the pancreas, often with painful inflammation (

14714: 14472: 14377: 14328: 14309: 14263: 14220: 14206: 14192: 14017: 14012: 13998: 13950: 13839: 13787: 13782: 13777: 13572: 13565: 13429: 13350: 13189: 13125: 12974: 12363: 12355: 12314: 12306: 12227: 12205: 12156: 12148: 12104: 12094: 12047: 12010: 12000: 11955: 11947: 11898: 11888: 11847: 11806: 11796: 11755: 11693: 11670: 11650: 11612: 11604: 11563: 11559: 11555: 11461: 11439: 11400: 11350: 11342: 11295: 11244: 11201: 11115: 11092: 11078: 11029: 11021: 10994: 10972: 10964: 10941: 10921: 10876: 10868: 10827: 10823: 10819: 10808:"The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study" 10780: 10745: 10702: 10649: 10614: 10555: 10547: 10506: 10465: 10457: 10416: 10298: 10263: 10187: 10148: 10040: 9983: 9948: 9920: 9883: 9873: 9824: 9777: 9740: 9732: 9552: 9544: 9517: 9497: 9460: 9452: 9411: 9401: 9360: 9356: 9352: 9308: 9304: 9300: 9259: 9232: 9212: 9177: 9139: 9135: 9131: 9085: 9081: 9077: 9036: 9032: 9028: 8989: 8952: 8911: 8907: 8903: 8834: 8826: 8787: 8750: 8746: 8742: 8614: 8610: 8606: 8565: 8561: 8557: 8456: 8452: 8448: 8407: 8403: 8399: 8358: 8354: 8350: 8309: 8305: 8301: 8260: 8256: 8252: 8215: 8211: 8207: 8166: 8162: 8158: 8065: 8057: 8010: 7973: 7965: 7747: 7676: 7639: 7631: 7585: 7581: 7577: 7542: 7538: 7501: 7497: 7493: 7451: 7414: 7410: 7406: 7364: 7321: 7284: 7280: 7276: 7230: 7226: 7222: 7181: 7177: 7173: 7132: 7128: 7124: 7076: 7072: 7068: 7027: 7023: 7019: 6954: 6917: 6852: 6848: 6815: 6807: 6766: 6719: 6682: 6678: 6674: 6633: 6625: 6584: 6576: 6535: 6527: 6486: 6476: 6433: 6373: 6326: 6283: 6248: 6181: 6134: 6097: 6056: 6048: 6009: 5972: 5923: 5913: 5850: 5809: 5799: 5757: 5720: 5712: 5673: 5637: 5566: 5558: 5509: 5501: 5449: 5441: 5430:"Ecological Succession of Polymicrobial Communities in the Cystic Fibrosis Airways" 5399: 5328: 5291: 5250: 5242: 5193: 5185: 5144: 5134: 5087: 5050: 5040: 4972: 4968: 4937: 4933: 4890: 4867: 4847: 4805: 4756: 4709: 4656: 4648: 4607: 4599: 4552: 4509: 4472: 4433: 4396: 4388: 4347: 4303: 4258: 4219: 4182: 4143: 4106: 4102: 4098: 4050: 4042: 4003: 3963: 3926: 3860: 3819: 3778: 3710: 3700: 3661: 3624: 3614: 3575: 3461: 3383: 3306: 3265: 3257: 3216: 3208: 3167: 3163: 3159: 3117: 2952: 2913: 2867: 2832: 2751: 2653: 2593: 2437: 2425: 2330: 2227: 1761: 1680: 1298: 993: 907: 702: 569:

Lung disease results from clogging of the airways due to mucus build-up, decreased

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which may be given intravenously, inhaled, or by mouth. Sometimes, the antibiotic

284:

manner. It is caused by the presence of mutations in both copies (alleles) of the

14739: 14718: 14643: 14411: 14145: 14036: 14031: 13936: 13801: 13758: 13729: 13594: 13546: 13434: 13385: 13306: 13222: 12475: 12396: 12178: 11893: 10683:

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Monaldi Archives for Chest Disease = Archivio Monaldi per le Malattie del Torace

6052: 6013: 5918: 5901: 5593: 5562: 3967: 3931: 3914: 3619: 1854:

of this technique seems to be the increase of gas pressure behind mucus through

14971: 14955: 13904: 13532: 13194: 13105: 13025: 12835: 12830: 12152: 12005: 11951: 11874: 11760: 11743: 10784: 10302: 9216: 8993: 8830: 8061: 7455: 6811: 6629: 5332: 5189: 5119:

Proceedings of the National Academy of Sciences of the United States of America

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A number of small molecules that aim at compensating various mutations of the

1641:

infections has been shown not to be any better than antibiotics taken orally.

782:) and can cause bloating, pain, and incomplete or complete bowel obstruction. 743:

Individuals with CF also have difficulties absorbing the fat-soluble vitamins

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Wainwright CE (October 2014). "Ivacaftor for patients with cystic fibrosis".

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in their saliva and mucus (Banfi et al.). In the case of milder forms of CF,

1382: 1245:. Once within the lungs, these bacteria adapt to the environment and develop 1183:, OSCN, cannot be produced by the immune defense system. Because chloride is 1157: 1052: 974: 970: 919: 886: 835: 590: 416: 307:

There is no known cure for cystic fibrosis. Lung infections are treated with

270: 146: 12438: 11983:

Liu K, Wang C, Zhou X, Guo X, Yang Y, Liu W, et al. (31 January 2024).

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Shteinberg M, Haq IJ, Polineni D, Davies JC (June 2021). "Cystic fibrosis".

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Shteinberg M, Haq IJ, Polineni D, Davies JC (June 2021). "Cystic fibrosis".

2149: 1672: 1353: 823:. Liver disease is the third-most common cause of death associated with CF. 229:. CF is a rare genetic disorder that affects mostly the lungs, but also the 14452: 13690: 13561: 13514: 12899: 12851: 12720: 12377: 12328: 12219: 12170: 12118: 12059: 12024: 11969: 11912: 11861: 11820: 11769: 11705: 11662: 11626: 11577: 11364: 11213: 11127: 11043: 11025: 10986: 10890: 10806:

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Westerman EM, Le Brun PP, Touw DJ, Frijlink HW, Heijerman HG (March 2004).

6731: 6696: 6647: 6598: 6549: 6500: 6447: 6387: 6338: 6195: 6146: 6111: 6070: 5986: 5937: 5864: 5823: 5734: 5523: 5463: 5411: 5340: 5305: 5264: 5207: 5158: 5099: 5064: 4980: 4902: 4859: 4819: 4721: 4670: 4621: 4564: 4556: 4486: 4461:"Regulation of male fertility by CFTR and implications in male infertility" 4445: 4410: 4361: 4272: 4196: 4187: 4170: 4155: 4120: 4046: 4015: 3975: 3874: 3833: 3751: 3724: 3673: 3638: 3587: 3473: 3395: 3279: 3230: 3181: 3129: 2966: 2925: 2879: 2844: 2763: 2626: 2613: 2448: 2401: 2300: 2266: 2181: 2153: 1980: 1951: 1881: 1866: 1801: 1698: 1676: 1579: 1566: 1541: 1071: 1048: 1032: 997: 882: 771: 733: 714: 657: 601:), and respiratory failure requiring support with breathing masks, such as 574: 512: 505: 461: 312: 12210: 12193: 11412: 11307: 11256: 11205: 11159: 10933: 10841: 10757: 10661: 10626: 10534:

Moran A, Dunitz J, Nathan B, Saeed A, Holme B, Thomas W (September 2009).

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de Vries JJ, Chang AB, Bonifant CM, Shevill E, Marchant JM (August 2018).

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Other mutations result in proteins that are too short (truncated) because

1087:

Up to one in 25 individuals of Northern European ancestry is considered a

581:), further exacerbate difficulties in breathing. Other signs include high 14713: 14652: 13659: 13606: 13589: 13584: 13537: 13492: 13343: 13291: 13258: 13130: 12859: 12791: 12754: 12709: 12644: 12516: 12392:"Meet Sickboy: The Halifax Podcast Normalizing Death Through Dark Laughs" 10382:"Genetic testing for cystic fibrosis Genetic Testing for Cystic Fibrosis" 10356:(2nd ed.). Belmont, CA: Brooks/Cole, Cengage Learning. p. 304. 9573: 8980:

Zirbes J, Milla CE (September 2009). "Cystic fibrosis related diabetes".

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There is no strong evidence that people with cystic fibrosis can prevent

1587: 1582:

are given to help prevent infection or to control ongoing infection. The

1549: 1386: 1165: 1161: 1031:

apiece, which allow the protein to cross the cell membrane. A regulatory

1028: 954: 931: 915: 911: 820: 812: 779: 672: 520: 501: 473: 412: 308: 274: 266: 150: 117: 82: 58: 11801: 7325: 7265:"Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis" 5174:"A novel host defense system of airways is defective in cystic fibrosis" 5045: 4588:"Toward inclusive therapy with CFTR modulators: Progress and challenges" 1237:) dominates. By 18 years of age, 80% of patients with classic CF harbor 870:

diabetes, and is one of the principal nonpulmonary complications of CF.

803:

Thickened secretions also may cause liver problems in patients with CF.

660:, which can cause lung damage and do not respond to common antibiotics. 277:

in most males. Different people may have different degrees of symptoms.

13579: 13179: 13165: 13140: 13115: 13110: 13044: 12915: 12891: 12840: 12714: 12679: 12654: 12538: 11444: 11427: 11010:"Evaluating candidate agents of selective pressure for cystic fibrosis" 10653: 8892:"Pancreatic enzyme replacement therapy for people with cystic fibrosis" 8708:"Surgical Treatment of Infections of the Lung, Pleura, and Mediastinum" 8014: 7947: 7945: 7800:"Trikafta (elexacaftor, ivacaftor and tezacaftor) FDA Approval History" 7312:

Kuver R, Lee SP (April 2006). "Hypertonic saline for cystic fibrosis".

7111:

Langton Hewer SC, Smith S, Rowbotham NJ, Yule A, Smyth AR (June 2023).

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Marieb EN, Hoehn K, Hutchinson M (2014). "22: The Respiratory System".

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Agrawal A, Agarwal A, Mehta D, Sikachi RR, Du D, Wang J (August 2017).

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In addition, the evidence is increasing that genetic modifiers besides

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Radtke T, Smith S, Nevitt SJ, Hebestreit H, Kriemler S (August 2022).

7711:"Press Announcements - FDA approves new treatment for cystic fibrosis" 7475: 7473: 6723: 6531: 6514:

Wingårdh AS, Göransson C, Larsson S, Slinde F, Vanfleteren LE (2020).

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Molecular Diagnostics: Fundamentals, Methods and Clinical Applications

1823:

supplementation in people with cystic fibrosis is lacking as of 2020.

1693:

Cystic fibrosis transmembrane conductance regulator § Drug target

1107: 13654: 13286: 13155: 13150: 13120: 12671: 12527: 12492: 10461: 10012:. Cystic Fibrosis Canada. 2011. No. 10684-5100 RR0001. Archived from 9617:"Annual Data Report 2016 Cystic Fibrosis Foundation Patient Registry" 9548: 8196:"Vitamin A and beta (β)-carotene supplementation for cystic fibrosis" 8094:"Vertex prices cystic fibrosis combo treatment at $ 311,000-per-year" 7635: 6167: 3419:"Unexplained bruising: weighing the pros and cons of possible causes" 2904:

Ong T, Ramsey BW (September 2015). "Update in Cystic Fibrosis 2014".

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Economically, for carrier couples of cystic fibrosis, when comparing

1274: 1169: 1001: 927: 878: 831: 816: 808: 762:

In addition to the pancreas problems, people with CF experience more

756: 752: 748: 744: 516: 443: 436: 293: 258: 250: 242: 169: 11720: 7942: 5625: 5220: 1991:

obstruction and to limit further infections. Nasal steroids such as

634:

can occur, especially through transmission from patient to patient.

14525: 13669: 13554: 12954: 12687: 12554: 11191: 10872: 7742:"FDA approves another Vertex drug for treatment of cystic fibrosis" 7470: 7441: 4168: 2642: 2252: 2145: 1667: 1557: 1435:

or couples planning a pregnancy can have themselves tested for the

1432: 1062:

modulate the frequency and severity of the disease. One example is

903: 710: 706: 698: 668: 489: 428: 371: 363: 230: 41: 12497: 11477:"Scientists Develop New Techniques To Track Down Defects in Genes" 10925: 10403:

Rosenfeld M, Davis R, FitzSimmons S, Pepe M, Ramsey B (May 1997).

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Davis LB, Champion SJ, Fair SO, Baker VL, Garber AM (April 2010).

5958: 2416:

the gene. In 1989, Lap-Chee Tsui led a team of researchers at the

2172:

and in Asian Americans, the rate was even lower at one in 32,000.

1138: 962: 946:

Cystic fibrosis has an autosomal recessive pattern of inheritance.

789: 671:. Individuals with CF may develop overgrowth of the nasal tissue ( 650:

causes worsening of breathing problems. Another is infection with

12907: 12783: 9289:"Antioxidant supplementation for lung disease in cystic fibrosis" 9120:"Bisphosphonates for osteoporosis in people with cystic fibrosis" 8120:"FDA Approves the First New Cystic Fibrosis Treatment in Decades" 7810: 5961:"Thiocyanate concentration in saliva of cystic fibrosis patients" 5536: 2516: 2421: 2209: 2164: 1947: 1754: 1749:; the manufacturer announced a list price of $ 292,000 per year. 1210: 1111:

The CFTR protein is a channel protein that controls the flow of H

874: 855: 851: 431:, often requiring surgery to correct. Newborns occasionally have 254: 12464: 11834:

Trend S, Fonceca AM, Ditcham WG, Kicic A, Cf A (November 2017).

11730: 10805: 10114: 9684: 8860: 8858: 8147:"Ursodeoxycholic acid for cystic fibrosis-related liver disease" 7887: 4423: 2599:

Every Breath I Take: Surviving and Thriving with Cystic Fibrosis

942: 14825: 14774: 14507: 14466: 14355: 14341: 14099: 14093: 14087: 14073: 14067: 13833: 13814: 13795: 13771: 13747: 13004: 12817: 12746: 12433: 10854: 9938: 9530: 9387: 9017:"Drug treatments for managing cystic fibrosis-related diabetes" 7110: 6124: 4133: 3451: 2263:, before the mutations that created lactose tolerance appeared. 1188: 725: 642: 594: 481: 238: 216: 74: 12292: 7918: 7916: 6661:

Coffey MJ, Garg M, Homaira N, Jaffe A, Ooi CY (January 2020).

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Stern RC (February 1997). "The diagnosis of cystic fibrosis".

3849:"Gastrointestinal outcomes and confounders in cystic fibrosis" 3566:

Rowe SM, Miller S, Sorscher EJ (May 2005). "Cystic fibrosis".

1644: 159:

cystic fibrosis transmembrane conductance regulator modulators

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Haq IJ, Gray MA, Garnett JP, Ward C, Brodlie M (March 2016).

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Padoan R, Cirilli N, Falchetti D, Cesana BM (November 2019).

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Mitchell RS, Kumar V, Robbins SL, Abbas AK, Fausto N (2007).

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CF is caused by having no functional copies (alleles) of the

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Genetic disorder inhibiting clearance of mucus from the lungs

11234: 10249: 10002: 9910: 9341:"Physical activity and exercise training in cystic fibrosis" 8193: 7930:. Bethesda, Md.: Cystic Fibrosis Foundation. 21 October 2019 6752: 6611: 6419: 5871: 4837: 3805: 3097: 2285:

mutant allele could provide resistance against tuberculosis.

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have been found to protect carriers from other diseases, an

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are sometimes used, the recommended treatment is the use of

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Aerosolized medications that help loosen secretions include

1491:, encouragement of good nutrition, and an active lifestyle. 1459:

During pregnancy, testing can be performed on the placenta (

1326:(chronic airway-colonizers); some filamentous fungi such as 1192:

with CF. This lost salt forms the basis for the sweat test.

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Kalamara EI, Ballas ET, Pitsiou G, Petrova G (March 2021).

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So far, no large-scale research involving the incidence of

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