Cystic fibrosis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Cystic fibrosis (CF) is an autosomal recessive disease that caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. This gene codes for a chloride transporter found on the surface of the epithelial cells that line multiple organs especially lungs and GI tract. The mutation results in abnormal viscous mucoid secretions and main clinical features are pancreatic insufficiency and chronic endobronchial infection.