摘要
儿童先天代谢异常是导致肥厚型心肌病(HCM)的重要病因,掌握每种疾病的特征性表现有助于正确的诊断及鉴别诊断。多数先天代谢异常伴发HCM属于常染色体隐性遗传,少数为常染色体显性遗传X连锁遗传方式,部分线粒体病呈母系遗传。常规心电图、超声心动图等心脏检查即可以为部分疾病的基础病因找到诊断线索。随着酶替代疗法等新的治疗方法的不断进步,加强心脏评估,恰当地针对原发病治疗,多学科协同合作将为越来越多的患者生存提供可能。
Inborn errors of metabolism in children is an important cause of hypertrophic cardiomyopathy. Characteristic manifestations of the diseases are helpful for rapid diagnosis. Most of the diseases are autosomal recessive inheritance,a few of them are autosomal dominant inheritance,X-linked inheritance,while some mitochondrial diseases are maternal inheritance. Conventional cardiac examinations such as electrocardiogram and echocardiography can provide diagnostic clues for the underlying causes of some diseases. With the rapid progress of new treatment methods such as enzyme replacement therapy,strengthening cardiac assessment,appropriate treatment for underlying diseases and multi-disciplinaries collaboration will provide more opportunities of survival for the patients.
作者
闫辉
陈永红
YAN Hui;HEN Yong-hong(Department of Pediatrics, Peking University First Hospital, Beijing 100034, China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2019年第5期385-388,共4页
Chinese Journal of Practical Pediatrics
关键词
先天代谢异常
肥厚型心肌病
儿童
inborn errors of metabolism
hypertrophic cardiomyopathy
child