What is the role of genetics in the etiology of chronic pancreatitis?

Updated: Jul 15, 2019
  • Author: Jason L Huffman, MD; Chief Editor: BS Anand, MD  more...
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Answer

A mutation in the gene encoding the serine protease inhibitor, Kazal type 1, has been identified in patients with chronic pancreatitis. The N34S mutation was detected in 5.8% of 274 patients with alcoholic chronic pancreatitis, compared with 1.0% of people with alcoholism without pancreatitis. Although all patients were heterozygous for the mutation, it provides evidence for abnormalities in the pancreatic protease/protease inhibitor system playing a role in the pathogenesis of alcoholic chronic pancreatitis.


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