儿童遗传性胰腺炎及其家系分析一例报道并文献复习  

Hereditary Pancreatitis in Children:Report of One Case with Pedigree Analysis and Literature Review

作　　者：何小莉 梁淑恒 李妙遐 孔晋亮[4] 单庆文[1] HE Xiaoli;LIANG Shuheng;LI Miaoxia;KONG Jinliang;SHAN Qingwen(Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Department of Pediatrics,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China;Department of Radiology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Department of Respiratory,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院儿科,广西壮族自治区南宁市530021 [2]广西壮族自治区妇幼保健院儿科,广西壮族自治区南宁市530003 [3]广西医科大学第一附属医院放射科,广西壮族自治区南宁市530021 [4]广西医科大学第一附属医院呼吸内科,广西壮族自治区南宁市530021

出　　处：《中国全科医学》2023年第5期641-646,共6页Chinese General Practice

摘　　要：遗传性胰腺炎(HP)是一种罕见的常染色体遗传病,表现为胰腺炎反复发作,常并发3c型糖尿病(T3cDM),甚至导致胰腺癌的发生,影响患者的生活质量及预后。本文报道了1例由丝氨酸蛋白酶1(PRSS1)基因p.Val39Ala(V39A)突变导致的HP患儿,同时对其家系进行了分析,以期为临床医师诊治HP提供参考。Hereditary pancreatitis(HP)is a rare autosomal genetic disease that is often manifested by recurrent pancreatitis and complicated type 3c diabetes mellitus(T3cDM),and even leads to pancreatic cancer,impairing the quality of life and prognosis of patients.We reported a child with HP caused by p.Val39Ala(V39A)mutation of the PRSS1 gene with a pedigree analysis,which is the first case report in China,hoping to provide clinicians with evidence for the diagnosis and treatment of HP.

关 键 词：胰腺炎 遗传性胰腺炎 儿童 丝氨酸蛋白酶类 基因 突变 3c型糖尿病 胰腺肿瘤 

分 类 号：R576[医药卫生—消化系统]