中国实用儿科杂志

中国实用儿科杂志

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甲基丙二酸尿症并发心血管疾病的认识与诊治

  

  1. 北京大学第一医院儿科，北京  100034
  • 出版日期:2018-07-06 发布日期:2018-07-17

Cardiac disease in methylmelonic aciduria: Understanding and management

  1. Department of Pediatrics，Peking University First Hospital，Beijing  100034，China压；诊断；治疗
  • Online:2018-07-06 Published:2018-07-17

摘要：

甲基丙二酸尿症心血管系统受累可并发先天性心脏病、心肌病、肺高血压及血栓性疾病，是造成甲基丙二酸尿症患儿死亡的重要原因之一，该文复习相关文献，阐述心血管系统受累疾病临床特点，探讨其诊断及治疗，以期提高临床医生对该病心血管系统受累的诊治水平。

关键词: 甲基丙二酸尿症, 心血管疾病, 肺高血压, 诊断, 治疗

Abstract:

Methylmelonic aciduria may involve cardiovascular system and be manifested as congenital heart disease，cardiomyopathy，pulmonary hypertension and thromboembolic events. Cardiovascular involvement is one of the causes of death in children with methylmalonic aciduria. This article will review the relevant literature，explain the clinical features of cardiovascular involvement and discuss its diagnosis and treatment，so as to improve our understanding and management ability of cardiac disease complicating methylmelonic aciduria.

Key words: methylmelonic acidemia, cardiovascular disease, pulmonary hypertension, diagnosis, treatment