Are mutations in the cystic fibrosis gene important in chronic pancreatitis?
The leading causes of chronic pancreatitis are alcohol and idiopathic pancreatitis. The importance of genetic factors in chronic pancreatitis has been uncertain. Recently, however, it was learned that many patients with idiopathic chronic pancreatitis have mutations of the cystic fibrosis gene. This article reviews the evidence that links mutations of this gene to unexplained pancreatitis, and discusses the implications of this for the evaluation, pathogenesis, classification, and possible prevention of pancreatitis.
Cohn
J A
JA
Department of Medicine, Duke University, Durham, North Carolina, USA. cohn0001@mc.duke.edu
Jowell
P S
PS
D000483:Alleles; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator