Hemolytic uremic syndrome associated with methylmalonic acidemia
10.3760/cma.j.issn.2095-428X.2016.17.003
- VernacularTitle:甲基丙二酸血症相关的溶血尿毒综合征
- Author:
Zhengkun XIA
;
Chunlin GAO
;
Zhuo SHI
- Publication Type:Journal Article
- Keywords:
Methymalonicacademia;
Hemolytic uremic syndrome;
Hydroxocobalamin
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(17):1288-1292
- CountryChina
- Language:Chinese
-
Abstract:
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.