Hereditary pancreatitis and mutation of the trypsinogen gene.
case_report · Level V
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- Record sourced from PubMed, PMID 10208958.
- Also identified by PMC identifier 1717934.
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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.
Medical subject headings
- Mutation
- Pancreatitis
- Trypsinogen