Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis.
Idiopathic chronic pancreatitis is a leading cause of chronic pancreatitis. Work from this and other groups has shown that idiopathic chronic pancreatitis is associated with mutations of the cystic fibrosis gene (CFTR). Many idiopathic pancreatitis patients have compound heterozygote genotypes in which both copies of the CFTR gene are abnormal. In these patients, the pancreatic disease can be viewed as a mild variant of cystic fibrosis, in which there is sufficient residual CFTR function to prevent lung disease. This article summarizes the evidence associating these abnormal CFTR genotypes with idiopathic chronic pancreatitis and reviews the implications of this association for the pathogenesis, classification, and prevention of pancreatitis.
Cohn
J A
JA
Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA. Cohn0001@mc.duke.edu
Bornstein
J D
JD
Jowell
P S
PS
D000293:Adolescent; D000328:Adult; D002648:Child; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010195:Pancreatitis / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator