分子遗传学检测在儿童胰腺炎诊断中的价值和意义  

The value and significance of gene sequencing in the diagnosis of pediatric pancreatitis

作　　者：肖园[1] Xiao Yuan(Department of Pediatrics,Ruijin Hospital,Shanghai Jiao Tong University,School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院儿内科,200025

出　　处：《中国小儿急救医学》2023年第7期485-489,共5页Chinese Pediatric Emergency Medicine

摘　　要：随着技术的发展和临床研究的进展,遗传因素已经成为儿童胰腺炎病因构成中的重要一环。相关基因的变异可以使得儿童罹患急性复发性胰腺炎和慢性胰腺炎的风险大大增加,发展为胰腺内、外分泌功能受损的时间缩短,并增加了在成人期罹患胰腺癌的风险。本文总结了基因变异与胰腺炎相关的临床研究进展,阐述了不同基因变异导致胰腺炎的机制、风险和临床表型,并分析了在胰腺炎患儿中进行相关基因检测的意义,旨在帮助广大儿科医师把握好在儿童胰腺炎中进行基因检测的指征,做好相关的诊断、预后评估和遗传咨询。Genetics has become one of the most important factors in the etiology of pediatric pancreatitis with advances in technology and clinical studies.Variations in these genes may increase the risk of acute recurrent and chronic pancreatitis in children,accelerate progression to endocrine and exocrine pancreatic insufficiency,and increase the risk of pancreatic cancer in adulthood.This review summarized the clinical research on the relationship between gene variations and pancreatitis,elaborated on the mechanisms,risks,and clinical phenotypes of pancreatitis caused by different gene variations,and analyzed the significance of related gene sequencing in children with pancreatitis.It aims to help pediatricians know the indications of gene sequencing in pediatric pancreatitis and do much better in relevant diagnosis,prognosis evaluation,and genetic counseling.

关 键 词：胰腺炎 急性复发性胰腺炎 慢性胰腺炎 遗传性胰腺炎 基因测序 

分 类 号：R725.7[医药卫生—儿科]