Pancreatitis and cystic fibrosis gene mutations.
Cystic fibrosis (CF) is a genetic disease with multisystem involvement in which defective chloride transport across membranes causes dehydrated secretions. The protein encoded by the CF gene--the cystic fibrosis transmembrane conductance regulator (CFTR)--functions as a cyclic adenosine monophosphate-regulated chloride channel. The ability to detect CFTR mutations has led to the recognition of its association with a variety of conditions, including 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 exciting research identifying mutations in the CFTR gene as a risk factor for idiopathic acute and chronic pancreatitis.
Choudari
C P
CP
Division of Gastroenterology/Hepatology, Indiana University Medical Center, Indianapolis, USA.
Lehman
G A
GA
Sherman
S
S
D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics* / Q000378:metabolism
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator