Rolston R K, Kant J A
Division of Molecular Diagnostics, University of Pittsburgh Medical Center, S701 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15213, USA.
Curr Gastroenterol Rep. 2001 Apr;3(2):115-20. doi: 10.1007/s11894-001-0007-6.
Hereditary pancreatitis (HP) is clinically indistinguishable from pancreatitis with other causes. Patients with HP have an increased chance of developing pancreatitis. Mutations in the cationic trypsinogen gene appear to cause most HP, although there is evidence for mild genetic heterogeneity with defects in other genes. Trypsin stabilization and protection from autolysis appear to play a central role in the pathogenesis of pancreatitis. The role of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) as well as the pancreatic secretory trypsin inhibitor (PSTI) in patients with pancreatitis is intriguing but as yet incompletely understood. Genetic testing may help to identify and manage patients with HP. Healthcare professionals should understand the elements necessary for obtaining informed consent for patients undergoing these tests, the limits in interpreting test results, and the psychosocial issues that may arise from genetic testing.
遗传性胰腺炎（HP）在临床上与其他病因引起的胰腺炎无法区分。HP患者发生胰腺炎的几率增加。阳离子胰蛋白酶原基因突变似乎是导致大多数HP的原因，尽管有证据表明存在轻度基因异质性，其他基因也存在缺陷。胰蛋白酶的稳定和防止自溶似乎在胰腺炎的发病机制中起核心作用。囊性纤维化跨膜传导调节因子（CFTR）以及胰腺分泌性胰蛋白酶抑制剂（PSTI）的突变在胰腺炎患者中的作用很有趣，但尚未完全了解。基因检测可能有助于识别和管理HP患者。医疗保健专业人员应了解为接受这些检测的患者获得知情同意所需的要素、解读检测结果的局限性以及基因检测可能引发的社会心理问题。
