儿童代谢性心肌病11例诊治分析

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (5): 459-461.

儿童代谢性心肌病11例诊治分析

饶姣^{1, 2}, 李渝芬², 王树水², 张智伟², 张程², 曾国洪^{2, 1}

1.南方医科大学（广东广州　510515）；2.广东省人民医院广东省医学科学院（广东广州　510080）

收稿日期:2013-12-19 出版日期:2014-05-15 发布日期:2014-05-15

The clinical experience of childhood cardiomyopathy caused by inborn errors of metabolism in 11 cases　

RAO Jiao^1,2,LI Yufen²,WANG Shushui²,ZHANG Zhiwei², ZHANG Cheng² ，ZENG Guohong^2,1

(Southern Medical University,Guangzhou,510515,China; Guangdong General Hospital, Guangdong Accademy of Medical Sciences, Guangzhou,510080,China)

Received:2013-12-19 Online:2014-05-15 Published:2014-05-15

摘要/Abstract

摘要：

　目的　总结代谢性心肌病的诊断及治疗。方法　回顾性分析2012年1月至2013年10月通过串联质谱检查、血清酶学检测、尿黏多糖检测及基因检测等方法确诊的11例代谢性心肌病患儿的临床资料。结果　11例患儿中有6例经血串联质谱检测及SLC22A5基因测序确诊为原发性肉碱缺乏症（primary carnitine deficiency，PCD），4例经外周血α-酸性葡萄糖苷酶活性测定确诊为糖原累积病Ⅱ型（glycogen storage disease，GSDⅡ），1例经尿黏多糖定性检测确诊为黏多糖贮积症（mucopolysaccharidosis，MPS）。6例PCD患儿予以补充左旋肉碱及抗心力衰竭治疗后随访2~10个月，心功能均恢复至正常；4例GSD和1例MPS患儿因缺乏有效治疗在诊断后数天~5个月内死亡。结论　遗传性代谢缺陷是儿童心肌病的重要病因，不同代谢缺陷所致心肌病的临床表现、诊断方法、治疗方法以及预后不同，早期确诊及针对性治疗可逆转部分代谢性心肌病。

Abstract: 　Objective　To summarize the diagnosis and treatment of cardiomyopathy caused by inborn errors of metabolism (IEM). Methods The retrospective study included 11 cases diagnosed as metabolic cardiomyopathy through tandem mass spectrometry, activity of serum enzyme, detection of urine mucopolysaccharide and gene analysis from 2012 to 2013. Six cases were diagnosed as primary carnitine deficiency (PCD). Four cases were diagnosed as glycogen storage disease (GSD) and only 1 case was diagnosed as mucopolysaccharidosis (MPS). 6 PCD cases received carnitine supplementation and anti-heart failure therapy and received follow-up for 2 -10 months .Other 5 cases received supportive treatment and follow-up. Results Patients with PCD recovered soon after treatment but other 5 cases have died within 5 months. Conclusion IEM is an important cause of children cardiomyopathy which varied in clinical manifestation, diagnosis, treatment and prognosis of different kinds of metabolic cardiomyopathy. Early diagnosis and treatment could be lifesaving for cardiomyopathy caused by IEM..

饶姣, 李渝芬, 王树水, 张智伟, 张程, 曾国洪. 儿童代谢性心肌病11例诊治分析[J]. 临床儿科杂志, 2014, 32(5): 459-461.

RAO Jiao,LI Yufen,WANG Shushui,ZHANG Zhiwei,ZHANG Cheng ,ZENG Guohong,. The clinical experience of childhood cardiomyopathy caused by inborn errors of metabolism in 11 cases　[J]. , 2014, 32(5): 459-461.

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