Cystic fibrosis (CF)

Abstract

Cystic fibrosis (CF) is a multi-system disease due to mutations in the gene encoding the CF transmembrane conductance regulator (CFTR), a complex chloride channel. CFTR is essential for regulating chloride permeability across epithelial tissues and, in addition, has other complex cellular roles. Loss of CFTR function or quantity causes inadequate hydration of mucous secretions. In the lungs this results in defective mucociliary clearance, mucus obstruction of the luminal space, and colonization with pathogenic bacteria. Recurrent cycles of infection and inflammation contribute to lung damage and subsequent development of bronchiectasis. In the pancreas, the exocrine ducts become blocked by secretions, leading to pancreatic destruction, pancreatic enzyme insufficiency, and CF-related diabetes.