中国实用儿科杂志

中国实用儿科杂志 ›› 2021, Vol. 36 ›› Issue (10): 741-744.DOI: 10.19538/j.ek2021100606

• 党为人民谋健康的 100 年·专题笔谈 • 上一篇    下一篇

精氨酸血症所致瘫痪的识别与对策

  

  1. 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: 张尧，电子信箱：zy_tzh@163.com
  • 基金资助:
    国家重点研发计划（2017YFC1001700）

Recognition and treatment for paralysis caused by argininemia

  1. Department of Pediatrics，Peking University First Hospital，Beijing  100034，China
  • Online:2021-10-06 Published:2021-12-30

摘要： 精氨酸血症是一种罕见的尿素循坏障碍性疾病，呈常染色体隐性遗传方式，病因为ARG1基因纯合或复合杂合致病变异导致精氨酸酶1功能缺陷。精氨酸血症患者临床表现复杂多样，可表现为智力运动倒退、癫痫发作、痉挛性瘫痪及肝损伤等。痉挛性瘫痪可能为主要或惟一的临床表现。对于临床怀疑精氨酸血症的患儿，可通过血液氨基酸、尿液有机酸及基因分析诊断，必要时进行酶学检测，以明确诊断。精氨酸血症的治疗对策主要包括低蛋白饮食、除氮药物及肝移植。肝移植是目前根治精氨酸血症的方法。

关键词: 精氨酸血症, 精氨酸, 瘫痪, 尿素循环障碍 

Abstract: Argininemia is a rare，autosomal recessive urea cycle disorder caused by homozygous or compound heterozygous pathogenic variations of ARG1 gene，which lead to arginase 1 deficiency. The clinical manifestations of the patients with argininemia are complicated and nonspecific. The patients usually present with mental retardation，epileptic seizures， spastic paralysis and liver dysfunctions. Spastic paralysis could be the main or exclusive clinical symptom. Argininemia can be diagnosed by blood amino acids analysis，urine organic acids assay and gene test. Arginase assay is necessary for suspected cases. The treatment includes a protein-restricted diet，nitrogen-removing agents and liver transplantation. Liver transplantation is the method to cure argininemia.

Key words: argininemia, arginine, paralysis, urea cycle disorder