Zhong Jiafei,Ji Xinting,Gu Shuo.Recent advances in diagnosis and treatment of syndromic hydrocephalus[J].Journal of Clinical Pediatric Surgery,2021,20(03):285-291.[doi:10.12260/lcxewkzz.2021.03.016]
综合征型脑积水的研究进展
- Title:
- Recent advances in diagnosis and treatment of syndromic hydrocephalus
- Keywords:
- Hydrocephalus/DI; Hydrocephalus/SU; Hydrocephalus/TH; Hydrocephalus/CO
- 分类号:
- R726;R742.7
- 摘要:
- 脑积水可分为综合征型脑积水和非综合征型脑积水，综合征型脑积水定义为伴发至少一处颅外严重先天性畸形的先天性脑积水，多与基因突变有关，目前所知的人类综合征型脑积水相关的致病基因达100多个。根据疾病类型，可将基因突变所致的综合征型脑积水分为八大类。本文通过总结最新文献，对各类综合征型脑积水的特点、相关突变基因及诊治研究进展作一综述。
- Abstract:
- Congenital hydrocephalus can be classified into two clinical forms of non-syndromic and syndromic chydrocephalus.Frequently associated with other congenital anomalies,syndromic hydrocephalus is caused by gene mutation.More than 100 genes in 8 categories are correlated with syndromic hydrocephalus.This review summarized the latest literature reports.The mutated genes and the characteristics and recent advances in the treatment of all types of syndromic hydrocephalus were extensively reviewed.
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备注/Memo
收稿日期:2019-09-24。
基金项目:海南省重点研发计划项目（编号：ZDYF2020225）
通讯作者:顾硕,Email:gushuo007@163.com