Hereditary pancreatitis and mutation of the trypsinogen gene

P Weber, V Keim, KP Zimmer - Archives of disease in childhood, 1999 - adc.bmj.com
P Weber, V Keim, KP Zimmer
Archives of disease in childhood, 1999adc.bmj.com
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.
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.
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