中国实用儿科杂志

中国实用儿科杂志 ›› 2021, Vol. 36 ›› Issue (10): 752-755.DOI: 10.19538/j.ek2021100609

• 党为人民谋健康的 100 年·专题笔谈 • 上一篇    下一篇

高鸟氨酸血症 -高氨血症 -同型瓜氨酸尿症综合征的诊断与治疗

  

  1. 1.山西省儿童医院儿内科，山西  太原  030013；2.北京大学第一医院儿科，北京  100034
  • 出版日期:2021-10-06 发布日期:2021-12-30
  • 通讯作者: 张改秀，电子信箱：zgx660927@aliyun.com
  • 基金资助:
    国家重点研发计划（2017YFC1001700）

Diagnosis and treatment of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

  1. *Department of Pediatrics，Shanxi Provincial Children’s Hospital，Taiyuan  030013，China
  • Online:2021-10-06 Published:2021-12-30

摘要： 高鸟氨酸血症-高氨血症-同型瓜氨酸尿症（HHH）综合征是尿素循环障碍中一种少见类型，患者临床表现缺乏特异性，个体差异显著，临床识别困难，须通过生化代谢及基因分析才能确诊。文章从发病机制、临床表现、代谢特点、诊断和治疗的进展对HHH综合征进行归纳，以提高对本病的理解，为临床诊断和治疗提供参考。

关键词: 尿素循环障碍, 高氨血症, 遗传代谢病

Abstract: Hyperornithinemia-hyperammonemia-homocitrullinuria（HHH）syndrome is a rare disorder of urea cycle defect. The clinical manifestations of the patients are nonspecific and the individual differences were significant. Clinical diagnosis of HHH syndrome is difficult. Biochemical and genetic analysis are keys to the diagnosis. In this article，the advance on pathogenesis，clinical manifestations，metabolic features，diagnosis and treatment of HHH syndrome is reviewed so as to improve to the understanding of this disease and provide reference for its clinical diagnosis and treatment.

Key words: urea cycle disorder, hyperammonemia, inherited metabolic disease