先天性代谢病代谢危象的急诊识别与处理

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.

Recognization and management of metabolic crises caused by inborn errors of metabolism in emergency department

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.