婴儿痉挛症遗传学病因及诊疗的研究进展  

Research progress on genetic etiology and diagnosis and treatment of infantile spasms

作　　者：聂良卉 王帅[1] 杨莉斌 马榕 陈汉江[1] 戎萍[1] NIE Lianghui;WANG Shuai;YANG Libin;MA Rong;CHEN Hanjiang;RONG Ping(Department of Pediatrics,First Teaching Hospital of Tianjin University of Traditional Chinese MedicineNational Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion,Tianjin 300381,China)

机构地区：[1]天津中医药大学第一附属医院,国家中医针灸临床医学研究中心儿科,天津300381

出　　处：《中国医药导报》2023年第5期33-37,共5页China Medical Herald

基　　金：国家自然科学基金资助项目(82174439、81503612、81904251)。

摘　　要：婴儿痉挛症(IS)是一种典型的灾难性癫痫性脑病,大多属于难治性癫痫。目前,IS的发病机制尚不完全清楚。近年来SCN2A、SCN8A、CDKL5、DEPDC5、STXBP1、GABRA、COL4A1/COL4A2、CASK等基因变异逐渐被证实与IS有一定相关性,由于不同基因变异所致临床表型的特殊性,西医治疗针对不同的致病机制,选用作用靶点不同的治疗药物。祖国医学从患儿体质及发病特点出发,辨证论治,随证加减,亦可有一定疗效。故本文对IS基因相关性遗传学病因及其诊疗方案进行综述,以期早期识别相关基因突变,提高临床诊疗效率。Infantile spasms is a typical catastrophic epileptic encephalopathy,most of which are refractory epilepsy.Currently,the pathogenesis of infantile spasms is not fully clearly.In recent years,gene variants such as SCN2A,SCN8A,CDKL5,DEPDC5,STXBP1,GABRA,COL4A1/COL4A2,and CASK etc.have been gradually confirmed to be related to infantile spasms.Due to the specificity of clinical phenotypes caused by different gene mutations,western medicine treatment selects different therapeutic drugs with different targets for different pathogenesis.Traditional Chinese medicine,based on the constitution and disease characteristics of children,can also have certain curative effects by treating according to syndrome differentiation.Therefore,this article reviews the etiology and diagnosis and treatment of infantile spasms gene-related genetics in order to identify relevant gene mutations at an early stage and improve the efficiency of clinical diagnosis and treatment.

关 键 词：婴儿痉挛症 WEST综合征 基因 癫痫 

分 类 号：R725[医药卫生—儿科]