EDA基因新发变异致少汗性外胚层发育不良一例报道并文献复习  

Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation of the EDA Gene:a Case Report and Literature Review

作　　者：祁婧 裴玉英 逯军[1] QI Jing;PEI Yuying;LU Jun(Department of Pediatrics,Haikou Affiliated Hospital of Central South University Xiangya School of Medicine,Haikou 570208,China)

机构地区：[1]中南大学湘雅医学院附属海口医院儿科,海南省海口市570208

出　　处：《中国全科医学》2021年第21期2749-2751,2756,共4页Chinese General Practice

摘　　要：外胚层发育不良是一组罕见的先天性疾病,主要累及外胚层来源的器官,如指甲、牙齿、头发和汗腺等,造成其结构及功能异常。EDA基因是少汗性外胚层发育不良(HED)的致病基因。HED患儿易发生高热,高热严重者可造成死亡。本文总结了1例EDA基因c.852T>A新发变异所致HED患儿的临床及基因突变情况,丰富了该病的基因突变谱,以增强临床对该罕见病的认识。Ectoderm dysplasia is a group of rare congenital diseases that mainly affect organs originating in the ectoderm,such as nails,teeth,hair,and sweat glands,causing abnormalities in their structure and function.EDA gene is the pathogenic gene of hypohidrosis ectodermal dysplasia(HED).Children with HED are prone to high fever,and even severe fever that can cause death.We summarized the clinical features and gene mutation characteristics of HED caused by a novel c.852T>A mutation in the EDA gene,and reviewed relevant literature to improve clinicians'awareness of this rare disease.

关 键 词：外胚层发育不良症 少汗性 常染色体隐性 EDA基因 半合子 遗传变异 

分 类 号：R729[医药卫生—儿科]