中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (1): 70-73.DOI: 10.19538/j.ek2023010613

• 病例报告 • 上一篇    下一篇

CBS基因突变致经典型高同型半胱氨酸尿症1例并文献复习

  

  1. 中国医科大学深圳市儿童医院  a 遗传代谢科，b 神经内科，广东  深圳  518038
  • 出版日期:2023-01-06 发布日期:2023-02-13
  • 通讯作者: 陈淑丽，电子信箱：13008803656@163.com
  • 基金资助:
    深圳市医疗卫生三名工程（SZSM201812005）；深圳市医学重点学科建设经费资助（SZXK033）

Classical homocystinuria caused by CBS gene mutation：A case report and literature review

  1. *Department of Genetics and Metabolism，Shenzhen Children's Hospital，China Medical University，Shenzhen  518038，china
  • Online:2023-01-06 Published:2023-02-13

摘要： CBS基因缺陷引起的经典型高同型半胱氨酸尿症主要累及心血管系统、神经系统、骨骼及眼部等，确诊需依靠基因检测。文章回顾性分析1例经典型高同型半胱氨酸尿症所致多发性血栓形成患儿的临床资料并复习相关文献，提示对于不明原因的儿童颅脑静脉血栓形成，需高度警惕CBS基因突变的可能，尽早完善基因检查并尽早规范治疗。对于维生素B6无反应的患儿，在严重并发症出现之前，可尽早行肝移植根治。

关键词: CBS基因, 经典型高同型半胱氨酸尿症, 静脉血栓, 肝移植

Abstract: Classical homocystinuria caused by CBS gene deficiency mainly affects the cardiovascular system，nervous system，bone and eyes. The diagnosis depends on genetic testing. The clinical data of a child with multiple thrombosis caused by classical homocystinuria were analyzed retrospectively and the related literatures were reviewed. For children with craniocerebral venous thrombosis caused by unknown causes，it is necessary to guard against the possibility of CBS gene mutation，complete genetic examination and carry out standardized treatment as soon as possible. For children without vitamin B6 response，liver transplantation can be performed as soon as possible before serious complications occur.

Key words: CBS gene, classical homocystinuria, venous thrombosis, liver transplantation