尿素循环障碍导致的危重症识别及对策

Identification and intervention of critical illness caused by urea cycle disorders

尿素循环障碍是一组罕见的严重疾病,急性期主要表现为高氨血症,引起急性脑病,可发生在任何年龄,尤其是新生儿,认识不足和延迟诊断很普遍。文章将从临床表现、血氨浓度、血气分析、血氨基酸及酰基肉碱分析、头颅磁共振成像和治疗等方面进行概述。早期识别、早期诊断和早期治疗可改善神经系统不良预后。

Urea cycle disorders(UCDs)are rare and severe disorders with non-specific symptoms.Acute encephalopathy caused by hyperammonemia occurs at any age,particularly in neonates. Under-recognition and delayed diagnosis of UCDs are common. The clinical manifestations,ammonia concentration,blood gas analyses,analysis of amino acids and acylcarnitines,brain MRI and intervention are reviewed in this article.Early identification,early diagnosis and early intervention can improve the prognosis of the nervous system.