Hereditary pancreatitis and mutation of the trypsinogen gene

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