Cystic fibrosis (CF), also known asmucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas,liver, kidneys and intestine.[1][2] Long-term issues include difficulty breathing and coughing upsputum as a result of frequent lung infections. Other symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others. Different people may have different degrees of symptoms.[1]
CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator(CFTR).[1] Those with a single working copy are carriers and otherwise mostly normal.[3] CFTR is involved in production of sweat, digestive fluids, and mucus.[4] When not functional usually thin secretions become thick.[5] The condition is diagnosed by a sweat test and genetic testing.[1]Screening of infants at birth take place in some areas of the world.[1]
There is no cure for cystic fibrosis.[3] 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. While not well supported by evidence, many people use airway clearance techniques such as chest physiotherapy.[1] The average life expectancy is between 37 and 50 years in the developed world.[6] Lung problems are responsible for death in 80% of people.[1]
