[Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family]

Cir Esp. 2006 Apr;79(4):252-4. doi: 10.1016/s0009-739x(06)70863-6.
[Article in Spanish]

Abstract

Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Humans
  • Male
  • Mutation*
  • Pancreatitis / genetics*
  • Pedigree
  • Trypsinogen / genetics*

Substances

  • Trypsinogen