嚢胞性線維症
Cystic fibrosis is the most common life-threatening autosomal recessive disease in the United States and Europe. It is a genetic disorder that affects the lungs, but also the pancreas, liver, kidneys, and intestine. It is caused by mutations in the CFTR protein, a chloride channel expressed in epithelial cells. Lung disease results from clogging of the airways due to mucus build-up, decreased mucociliary clearance, and resulting inflammation. In later stages, changes to the structure of the lung, such as bronchiectasis, occur. Around 5 to 10% of all patients with cystic fibrosis develop bronchiectasis.