遗传性胰腺炎的基础研究与临床诊治进展

Advances in Basic Research and Clinical Progress in Hereditary Pancreatitis

目的 探讨遗传性胰腺炎的基础研究及其诊断与治疗进展。方法 对近年的有关文献进行综述。结果 遗传性胰腺炎是胰腺炎的一种罕见类型 ,是一种有 80 %外显率的常染色体显性遗传病 ,其发病被认为是阳离子胰蛋白酶原基因突变所致 ,此类患者是胰腺癌的高发人群。结论 有关遗传性胰腺炎的研究取得了进展 ,这些研究为认识遗传性胰腺炎这一医学难题提供了许多有益的启示。

Objective To study the basic and clinical achievements in diagnosis and therapy of hereditary pancreatitis. Methods Related literatures of recent years were reviewed. Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80 % , and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer. Conclusion The progress has been made on hereditary pancreatitis and has given us many useful suggestions for a better understanding about this difficult medical problem.