摘要
先天性代谢缺陷病（IEMs）是由于维持机体正常代谢所必需的酶或转运蛋白等功能缺陷导致相应代谢途径阻断的一组少见遗传性疾病的总称。近年来随着临床分子遗传学的进展，越来越多的证据表明，IEMs是儿童心肌病的重要病因之一。部分IEMs患者通过早期正确干预及针对其病因纠正代谢紊乱后，心肌病有望得到改善，生存质量显著提高，因此，提高临床医师对遗传代谢性心肌病的认识具有重要意义。
Inborn errors of metabolism （IEMs） are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. In recent years,with the development of clinical molecular genetics,increasing evidence shows that IEMs are one of the important causes of cardiomyopathy in children. By precise intervention at an early stage and rectifying metabolic disorders for the cause, myocardial lesions are expected to be ameliorated and the quality of life may be significantly improved in some patients with IEMs. Therefore, it is of great importance to raise the awareness of metabolic cardiomyopathy in clinical practice.
作者
傅立军
陈浩
Fu Lijun;Chen Hao(Department of Cardiology,Shanghai Children＇s Medical Center,Shanghai Jiaotong University School of Medicine,Shang-hai 200127,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第13期965-969,共5页
Chinese Journal of Applied Clinical Pediatrics
关键词
心肌病
先天性代谢缺陷
诊断
治疗
Cardiomyopathy
Inborn errors of metabolism
Diagnosis
Treatment
