Pancreatitis and cystic fibrosis gene mutations

Cystic fibrosis (CF) is a genetic disease with multisystem involvement in w hich defective chloride transport across membranes causes dehydrated secret ions. The protein encoded by the CF gene-the cystic fibrosis transmembrane conductance regulator (CFTR)-functions as a cyclic adenosine monophosphate (AMP)-regulated chloride channel. The ability to detect CFTR mutations has led to the recognition of its association with a variety of conditions, inc luding chronic bronchitis, sinusitis with nasal polyps, pancreatitis, and, in men, infertility. This article reviews the impact of CF on the pancreas, the role of the CFTR protein in pancreatic secretion, and some of the exci ting research identifying mutations in the CFTR gene as a risk factor for i diopathic acute and chronic pancreatitis.