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Original article
Hereditary pancreatitis and mutation of the trypsinogen gene
  1. P Webera,
  2. V Keimb,
  3. K P Zimmerc
  1. aUniversity Children’s Hospital, CH-4005 Basel, Switzerland, bClinics of Internal Medicine, Department of Gastroenterology, University of Leipzig, D-04103 Leipzig, Germany, cUniversity Children’s Hospital, D-48149 Münster, Germany
  1. Dr P Weber, Basler Kinderspital, Römergasse 8, CH-4005 Basel, Switzerland.

Abstract

Hereditary pancreatitis is a rare form of chronic recurrent pancreatitis. A family, in which 11 members had chronic pancreatitis, five had diabetes, and two had pancreatic cancer, was studied, and hereditary pancreatitis was diagnosed in all patients by demonstrating the mutation in exon 3 of the cationic trypsinogen gene (R117H). The clinical implications of genotypic analysis in hereditary pancreatitis are discussed.

  • pancreatitis
  • mutational analysis
  • trypsinogen gene

https://doi.org/10.1136/adc.80.5.473

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