New insights into hereditary pancreatitis.
The recent discovery that mutations in the trypsinogen gene are responsible for acute and chronic pancreatitis, and that patients with hereditary pancreatitis are at great risk for pancreatic cancer, has opened the door to understanding many aspects of pancreatic disease. This review focuses on the clinical presentation of hereditary pancreatitis, the mechanism of disease, and implications of this disease on understanding acute and chronic pancreatitis.
Whitcomb
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University of Pittsburgh Medical Center, Division of Gastroenterology and Hepatology, 571 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15261, USA.
D000208:Acute Disease; D019943:Amino Acid Substitution / Q000235:genetics; D002908:Chronic Disease; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D010195:Pancreatitis / Q000175:diagnosis / Q000235:genetics*; D014362:Trypsinogen / Q000235:genetics
D014362:Trypsinogen