CAJ | 학술논문

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.
유전대사병환인경상이엄중산중독、고안혈증、뇌수종、혼미、기수、추휵、구토、기무력、황달、호흡곤난등증상재PICU주원,소인중증의학과의생응중시대유전대사병진단화치료적인식,제고대유전대사병적진치수평.본문개소료소인중증의학과의생응기본장악적유전대사병적개념、림상표현、진단방법화기본치료방법,병제출료대유전대사병중증위상환인혈액정화치료적중요성.
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.