甲基丙二酸尿症肾脏损伤诊疗对策  

Diagnosis and treatment of kidney damage caused by methylmalonic aciduria

作　　者：吕楠 马彩云[1] LYU Nan;MA Cai-yun(Department of Rehabilitation Medicine,Children＇s Hospital Affiliated to Zhengzhou University,Children＇s Hospital of Henan Province,Zhengzhou Children＇ s Hospital,Zhengzhou 450053,Chin)

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康复医学中心,河南郑州450053

出　　处：《中国实用儿科杂志》2018年第7期506-509,共4页Chinese Journal of Practical Pediatrics

基　　金：国家重点研发计划(2017YFC1001704)

摘　　要：甲基丙二酸尿症(MMA)是有机酸代谢病中最常见的类型,常导致多器官损伤,以神经系统损伤常见,其中部分患者合并或仅表现为肾脏损伤,需引起重视。MMA所致的肾脏损伤以肾小管间质性损伤为主,临床表现多为血尿、蛋白尿、水肿、高血压,如果未能治疗,疾病逐步进展,可导致肾功能衰竭。血浆总同型半胱氨酸、血液氨基酸及酯酰肉碱谱、尿有机酸检测及基因分析是MMA的重要病因诊断方法,多数MMA维生素B12治疗有效,肾脏损伤是可逆的,可获得改善或康复。对不明原因的肾脏疾病者应注意进行鉴别诊断,早期诊断、早期干预是改善MMA预后的关键。Methylmalonic acidemia,also known as methylmalonic aciduria,is the most common disease of organic acids metabolic disorders. The patients usually present with multiorganic damage. Neurological diseases are common findings. In some patients,kidney disease is one of the complication or the only symptom. Kidney damage due to methylmalonic acidemia needs much attention. Renal damage caused by methylmalonic acidemia is mainly manifested as tubulointerstitial injury. The common manifestations are hematuria,proteinuria,edema and hypertension. If left untreated,the pregressive disease will lead to renal failure. The detection of plasma total homocysteine,blood amino acids,acyl-carnitines and urinary organic acids and genetic analysis are the important methods of etiological diagnosis with methylmalonic acidemia. Most of the patients of methylmalonic acidemia are cobalamin-effective. The renal diseases are reversible. Many patients are improved or get recovery. For the patients with unexplained renal diseases,the differential diagnosis should be paid attention to. Early diagnosis and early intervention are keys to improving the outcome of the patients with methylmalonic acidemia.

关 键 词：甲基丙二酸尿症 有机酸尿症 肾脏损伤 

分 类 号：R72[医药卫生—儿科]