慢性胰腺炎遗传致病机制研究进展

慢性胰腺炎是一种以组织萎缩和不可逆纤维化为特征的复杂炎症性疾病,疾病后期出现胰腺内外分泌功能受损.自第1个慢性胰腺炎相关致病基因突变被发现以来,胰腺炎的遗传学研究取得了重大进展.多数慢性胰腺炎风险基因编码胰蛋白酶、胰蛋白酶抑制因子或胰腺内高表达的其他蛋白,其通过不同致病机制对胰腺造成损害.现回顾近年来慢性胰腺炎的遗传学研究进展,针对其遗传致病机制进行综述.

Progress in genetic pathogenesis of chronic pancreatitis

Chronic pancreatitis (CP) is defined as a complex inflammatory disease of the pancreas characterized by atrophy and irreversible fibrosis. Late in the course of the disease, a progressive loss of endocrine and exocrine function occurs. Since the discovery of the first pathogenic mutation of CP, great progress has been made in the genetic study of pancreatitis. Most of the CP-related risk genes encode trypsin, trypsin inhibitors and other proteins in the pancreas, and pathogenic variations damage the pancreas through multiple pathways. Herein we reviewed the genetic studies of CP in recent years and summed up the different genetic pathogenesis mechanisms.