Cystic fibrosis

Cystic fibrosis (CF) is a genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces.

Carrier screening can help those at risk make informed decisions about pregnancy, while newborn screening can ensure prompt diagnosis and treatment. A sweat test is the most conclusive for diagnosis and is performed in addition to genetic testing.

Symptom onset is often in early infancy; however, in milder cases, symptoms may not develop until later childhood.

Treatment of respiratory disease includes mucus thinners, airway clearance, and antibiotics. Cystic fibrosis transmembrane conductance regulator (CFTR) modulators can improve care and outcomes by partially restoring the function of mutated CFTR.

Gastrointestinal disease is treated with supplemental pancreatic enzymes, calorie support, and fat-soluble vitamins to support growth and nutrition.

Although CF is severely life-shortening, treatment advances mean that most patients will now survive to middle age.

Cystic fibrosis (CF) is a severely life-shortening genetic disease resulting from abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, and reproductive organs. The most common clinical manifestations are pancreatic dysfunction, resulting in calorie malabsorption; and lung disease, resulting from a cycle of mucus retention, infection, and inflammation.