A20单倍剂量不足合并甲基丙二酸血症1例及文献复习  

A20 Haploinsufficiency Combined with Methylmalonic Acidemia:A Case Report and Literature Review

作　　者：杨威[1] 毋盛楠 郝会民 杨海花[1] 王小红[1] 陈永兴 苏畅[2] 卫海燕[1] YANG Wei;WU Sheng-nan;HAO Hui-min;YANG Hai-hua;WANG Xiao-hong;CHEN Yong-xing;SU Chang;WEI Hai-yan(Department of Pediatric Endocrinology and Genetic Metabolism,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital Zhengzhou Children's Hospital,Zhenghzou 450053,Henan Province,China;Department of Endocrinology,Genetics and Metabolism,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing 100045,China)

机构地区：[1]郑州大学附属儿童医院/河南省儿童医院郑州儿童医院/内分泌遗传代谢科,河南郑州450053 [2]首都医科大学附属北京儿童医院内分泌遗传代谢科/国家儿童医学中心,北京100045

出　　处：《罕少疾病杂志》2023年第4期15-17,共3页Journal of Rare and Uncommon Diseases

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20190917)。

摘　　要：A20单倍剂量不足(HA20)是一种由肿瘤坏死因子α诱导蛋白3(TNFAIP3)基因功能缺失性变异导致的一种罕见的早发性自身炎症及自身免疫性疾病,临床罕见,容易误诊;甲基丙二酸血症(MMA)是一种常见的有机酸血症,该病具有较高的病死率和致残率,对患儿危害巨大。现报道1例HA20同时合并MMA患儿的临床诊疗及遗传学特点,并通过文献复习,总结HA20的临床特征、治疗、预后及MMA的诊治,以期提高临床医生对于HA20及MMA的认识,并对疾病诊治提供参考。Haploinsufficiency of A20(HA20)is a rare early-onset autoinflammatory and autoimmune disease caused by tumor necrosis factor-α-inducible protein 3(TNFAIP3)gene loss-of-function mutation.It is clinically rare and easily misdiagnosed.Methylmalonic acidemia(MMA)is a common organic acidemia which has a high mortality and disability rate,cause great hazard to children.We report the clinical diagnosis,treatment and genetic characteristics of a child with HA20 combined with MMA,summarize the clinical characteristics,treatment and prognosis of HA20 and conclude the diagnosis and treatment of MMA through literature review,which aiming to improve clinicians'understanding of HA20 combined with MMA and providing reference for the diagnosis and treatment of the disease.

关 键 词：A20单倍剂量不足 甲基丙二酸血症 HA20 TNFAIP3 

分 类 号：R331.1[医药卫生—人体生理学]