Cystic fibrosis

Cystic fibrosis (CF) is a genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces. Cystic fibrosis transmembrane conductance regulator (CFTR) gene variants are considered responsible for most disease.

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

CFTR modulators are now a central component of care for most patients, improving many clinical outcomes by partially restoring CFTR function.

Respiratory disease is treated with augmented airway clearance, antibiotics, and mucus thinners.

Gastrointestinal disease is primarily treated with supplemental pancreatic enzymes, a high-calorie diet, and fat-soluble vitamins to support growth and nutrition. Some patients will require treatment for gastroesophageal reflux and liver disease.

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

CF is a severely life-shortening genetic disease resulting from abnormalities in the 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.