Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis

Med Clin North Am. 2000 May;84(3):621-31, ix. doi: 10.1016/s0025-7125(05)70245-5.


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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chronic Disease
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • DNA Mutational Analysis*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype*
  • Humans
  • Male
  • Middle Aged
  • Pancreatitis / diagnosis
  • Pancreatitis / genetics*
  • Phenotype


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator