Cystic fibrosis (CF) is a common, often lethal inherited disorder caused by recessive genetic variants in the CF transmembrane conductance regulator (
CFTR) gene affecting 1 in 3300 neonates of White race.
1 The variants result in diminished function of chloride, sodium, and bicarbonate ion transport, leading to thick mucus production that causes functional derangement of multiple organs (eg, lungs, gastrointestinal system, and reproductive system).
2 Consequential frequent airway infections, chronic inflammation, exocrine pancreatic insufficiency (PI), and complications, such as CF-related diabetes (CFRD) and CF-related liver disease, result in general unease and poor quality of life.
3