CAJ | 학술논문

先天性代谢病代谢危象并非罕见,其临床表现常为非特异性,临床医生常倾向于在除外其他常见病后才考虑.未能得到及时治疗者可在数小时至数日内迅速恶化甚至死亡,存活者可遗留严重后遗症.诊断先天性代谢病代谢危象不需广泛了解生物化学代谢途径或每种代谢性疾病.熟悉可提示诊断线索的主要临床表现和初始辅助检查特征最为重要.早期诊断和恰当的治疗常可挽救生命、预防存活者的永久性神经系统后遗症.
선천성대사병대사위상병비한견,기림상표현상위비특이성,림상의생상경향우재제외기타상견병후재고필.미능득도급시치료자가재수소시지수일내신속악화심지사망,존활자가유류엄중후유증.진단선천성대사병대사위상불수엄범료해생물화학대사도경혹매충대사성질병.숙실가제시진단선색적주요림상표현화초시보조검사특정최위중요.조기진단화흡당적치료상가만구생명、예방존활자적영구성신경계통후유증.
Metabolic crises caused by inborn errors of metabolism are not rare.Its clinical manifestations are non-specific.Clinicians generally have a tendency to pursue this possibility only after other more common conditions have been excluded.If prompt treatment is not initiated early,the patients may deteriorated rapidly,even death may occurs over hours to days.The survivors may have severe sequelae.Diagnosis of metabolic crisis caused by inborn errors of metabolism does not require extensive knowledge of biochemical metabolic pathways or individual metabolic diseases.It is most important to have an intimate knowledge of the major manifestations and initial laboratory tests features that may suggest the diagnosis clues.An early diagnosis and institution of appropriate therapy is often life saving and can prevent permanent neurologic sequelae.