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, 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.
Weber
P
P
University Children's Hospital, CH-4005 Basel, Switzerland.
Keim
V
V
Zimmer
K P
KP
D000293:Adolescent; D002908:Chronic Disease; D005260:Female; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree; D014362:Trypsinogen / Q000235:genetics*
D014362:Trypsinogen