摘要
遗传代谢病(IEM)已成为儿科重症监护室(PICU)经常收治的疾病,具有较高的病死率和致残率。PICU医生应该熟悉IEM的基本特征和临床表现,熟悉基本的诊断流程和策略,掌握常见IEM的治疗原则,及时发现可疑病例并明确诊断。给予恰当治疗,可以挽救部分患儿的生命并避免严重后遗症的发生。
Children with inborn error of metabolism are being increasingly identified and are responsible for significant morbidity and mortality. Pediatric physicians should improve the understanding of inborn error of metabolism in order to best respond to these patients＇ needs on a diagnostic and therapeutic level.
出处
《中国实用儿科杂志》
CSCD
北大核心
2015年第8期561-564,共4页
Chinese Journal of Practical Pediatrics
关键词
遗传代谢病
诊断
治疗
儿科
inborn error of metabolism
diagnosis
management
pediatric
