儿童代谢性心肌病11例诊治分析

›› 2014, Vol. 32 ›› Issue (5): 459-461.

• Original Article • Previous Articles Next Articles

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

Abstract

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..

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

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