Cystic fibrosis mutations and genetic predisposition to idiopathic chronicpancreatitis

Idiopathic chronic pancreatitis is a leading cause of chronic pancreatitis. Work from this and other groups has shown that idiopathic chronic pancreat itis is associated with mutations of the cystic fibrosis gene (CFTR). Many idiopathic pancreatitis patients have compound heterozygote genotypes in wh ich both copies of the CFTR gene are abnormal. In these patients, the pancr eatic disease can be viewed as a mild variant of cystic fibrosis, in which there is sufficient residual CFTR function to prevent lung disease. This ar ticle summarizes the evidence associating these abnormal CFTR genotypes wit h idiopathic chronic pancreatitis and reviews the implications of this asso ciation for the pathogenesis, classification, and prevention of pancreatiti s.