摘要
遗传代谢病患儿经常以严重酸中毒、高氨血症、脑水肿、昏迷、嗜睡、抽搐、呕吐、肌无力、黄疸、呼吸困难等症状在PICU住院,小儿重症医学科医生应重视对遗传代谢病诊断和治疗的认识,提高对遗传代谢病的诊治水平.本文介绍了小儿重症医学科医生应基本掌握的遗传代谢病的概念、临床表现、诊断方法和基本治疗方法,并提出了对遗传代谢病重症危象患儿血液净化治疗的重要性.
Patients with inborn errors of metabolism and metabolic crisis sometimes are admitted in PICU.The symptoms include severe acidosis,hyperammonemia,cerebral edema,coma,lethargy,convulsion,vomit,muscles weakness,jaundice,respiratory disorders and so on.We should improve the understanding of inherited metabolism diseases.This paper reviewed the manifestation,diagnosis,management and therapeutic approach of inborn errors of metabolism,especially mentioned the importance of purification in treatment of metabolic crisis.
出处
《中国小儿急救医学》
CAS
2014年第6期337-339,共3页
Chinese Pediatric Emergency Medicine
关键词
小儿重症医学科
遗传代谢病
血液净化
Pediatric intensive care unit
Inborn errors of metabolism
Blood purification
