Hereditary pancreatitis and mutations of the cationic trypsinogen gene

Abstract

Abstract Background Mutations of the cationic trypsinogen gene have been detected in hereditary pancreatitis. This article reviews current understanding of their function and clinical significance. Methods An unrestricted Medline search was conducted using the key words ‘hereditary pancreatitis’ and ‘cationic trypsinogen’. Additional material was obtained from references cited in original papers and recently published abstracts of meetings. Results and conclusion Cationic trypsinogen mutations have been identified in most, but not all, families with hereditary pancreatitis. This confirms existing evidence that premature trypsinogen activation plays a central role in the pathogenesis of human pancreatitis. Patients currently clinically defined as having hereditary pancreatitis should be screened for the presence of cationic trypsinogen mutations. A subgroup of patients with non-hereditary pancreatitis may also benefit from being screened for these mutations. Patients with hereditary pancreatitis should be entered into prospective, multicentre trials investigating secondary screening for pancreatic cancer. Gene therapy for hereditary pancreatitis is beyond current technological capability but remains a future therapeutic prospect for this often debilitating condition.