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慢性胰腺炎遗传致病机制研究进展
毛霄彤,邹文斌,孙畅,李兆申,廖专*
0
(海军军医大学(第二军医大学)长海医院消化科, 上海市胰腺病研究所, 上海 200433
*通信作者)
摘要:
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。
关键词:  慢性胰腺炎  遗传学  致病机制  基因模型
DOI:10.16781/j.0258-879x.2021.07.0788
投稿时间:2019-08-25修订日期:2019-10-10
基金项目:国家自然科学基金(81700565,81770636).
Genetic pathogenesis of chronic pancreatitis: research progress
MAO Xiao-tong,ZOU Wen-bin,SUN Chang,LI Zhao-shen,LIAO Zhuan*
(Department of Gastroenterology, Shanghai Institute of Pancreatic Disease, Changhai Hospital, Naval Medical University (Second Military Medical University), Shanghai 200433, China
*Corresponding author)
Abstract:
Chronic pancreatitis is a complex inflammatory disease characterized by tissue atrophy and irreversible fibrosis. In the late course of the disease, a progressive loss of endocrine and exocrine function occurs. Since the discovery of the first pathogenic mutation of chronic pancreatitis, great progress has been made in the genetic study of pancreatitis. Most of the chronic pancreatitis-related risk genes encode trypsin, trypsin inhibitors or other proteins highly expressed in the pancreas. Herein we reviewed the genetic research progress of chronic pancreatitis in recent years and summed up its genetic pathogenesis.
Key words:  chronic pancreatitis  genetics  pathogenesis  genetic model