遗传性胰腺炎研究现状及进展  

Current research status and progress of hereditary pancreatitis

作　　者：马国秀 王元辰 邹文斌 廖专 MA Guo-xiu;WANG Yuan-chen;ZOU Wen-bin;LIAO Zhuan(Department of Gastroenterology,Changhai Hospital,Naval Medical University,Shanghai 200433,China)

机构地区：[1]海军军医大学附属长海医院消化内科、上海市胰腺病研究所,上海200433

出　　处：《中国实用内科杂志》2024年第7期532-536,共5页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金(82222012,82120108006)。

摘　　要：随着对胰腺炎机制的深入研究,遗传因素逐渐引起人们的重视。遗传性胰腺炎是一种常染色体遗传病,与多种基因突变相关,其中以PRSS1基因突变最为常见。遗传性胰腺炎的临床表现与其他类型胰腺炎基本相似,但其发病年龄早、疼痛发生率高、病程长且无法治愈,同时具有家族聚集性、胰腺癌高风险等特点,严重影响患者及家庭的生活质量。目前该病的临床管理模式以疼痛管理为主,辅以调整生活方式、胰腺癌监测及并发症治疗。近年来,围绕遗传性胰腺炎的临床特征、致病机制、诊断标准、治疗及预后开展了系列研究,现对相关研究进展进行综述。With the in-depth research on the etiology of pancreatitis,much more attentions have been attracted to the genetic factors.Hereditary pancreatitis is an autosomal disease associated with multiple gene mutations,of which PRSS1gene mutation is the most common.The clinical manifestations of hereditary pancreatitis are basically similar to those of other types of pancreatitis,but its early age of onset,high prevalence of pain,long and incurable course,as well as family aggregation and high risk of pancreatic cancer seriously affect the quality of life and prognosis of patients.The current clinical management model of this disease is mainly include pain management,supplemented by environmental trigger control,pancreatic cancer monitoring and complication treatment.In recent years,a lot of researches have focused on the clinical features,pathogenesis,diagnostic criteria and prognosis of hereditary pancreatitis,and the progress of related researches is now reviewed.

关 键 词：遗传性胰腺炎 家族性胰腺炎 基因突变 胰腺癌 PRSS1 

分 类 号：R576[医药卫生—消化系统]