甲基丙二酸血症相关的溶血尿毒综合征  

Hemolytic uremic syndrome associated with methylmalonic acidemia

作　　者：夏正坤[1] 高春林[1] 史卓[1] Xia Zhengkun Gao Chunlin Shi Zhuo(Department of Pediatrics, Nanjing General Hospital of Nanjing Military Command, Nanjing 210002, China)

机构地区：[1]南京军区南京总医院儿科,210002

出　　处：《中华实用儿科临床杂志》2016年第17期1288-1292,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金（81270800）

摘　　要：甲基丙二酸血症（methylmalonic acidemia，MMA）是一种常染色体隐性遗传的有机酸代谢障碍中较常见的疾病，可致多系统器官受累，可于婴儿甚至新生儿期发病，表现为喂养困难、反复呕吐、惊厥、肌张力异常、智力低下、溶血尿毒综合征等，其中MMA为始发原因导致的溶血尿毒综合征（hemolytic uremic syndrome，HUS）在儿童肾脏疾病中越来越被人们所了解，其诊断率逐年增高，现就MMA相关的HUS的流行病学、病因、发病机制、临床表现、治疗方面的进展进行综述。Methylmalonic acidemia（MMA） is one of the most common diseases of autosomal recessive inherited organic acid metabolic disorder, which can cause multiple organ involvement.It can be found in infants or even in the neonatal period and be manifested as feeding difficulty, repeated vomiting, convulsions, abnormal muscle tension, mental retardation, hemolytic uremic syndrome（HUS）, etc.In which HUS caused by MMA is better and better known by pediatricians when treating renal diseases while the diagnosis rate is increasing year by year.This article reviews the epidemiology, etiology, pathogenesis, clinical manifestations and treatment of HUS associated with MMA.

关 键 词：甲基丙二酸血症 溶血尿毒综合征 羟钴胺 

分 类 号：R725.8[医药卫生—儿科]