Cystic Fibrosis
| Cystic fibrosis | |
|---|---|
| Synonyms | mucoviscidosis |
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| Clubbing in the fingers of a person with cystic fibrosis | |
| Classification and external resources | |
| Specialty | Medical genetics, pulmonology |
| ICD-10 | E84 |
| ICD-9-CM | 277.0 |
| OMIM | 219700 |
| DiseasesDB | 3347 |
| MedlinePlus | 000107 |
| eMedicine | article/1001602 |
| Patient UK | Cystic fibrosis |
| MeSH | D003550 |
| GeneReviews | |
| Orphanet | 586 |
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males. Different people may have different degrees of symptoms.
CF is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at birth takes place in some areas of the world.
No cure for cystic fibrosis is known. Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth. Sometimes, the antibiotic azithromycin is used long term. Inhaled hypertonic saline and salbutamol may also be useful. Lung transplantation may be an option if lung function continues to worsen. Pancreatic enzyme replacement and fat-soluble vitamin supplementation are important, especially in the young.Airway clearance techniques such as chest physiotherapy have some short-term benefit, but long-term effects are unclear. The average life expectancy is between 42 and 50 years in the developed world. Lung problems are responsible for death in 80% of people with cystic fibrosis.
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