SCN1A基因突变阳性的Dravet综合征早期临床特点  

Early clinical features of Dravet syndrome with SCN1A mutation

作　　者：许小菁[1] 张月华[1] 孙慧慧[2] 刘晓燕[1] 杨小玲[1] 熊晖[1] 包新华[1] 王爽[1] 姜玉武[1] 

机构地区：[1]北京大学第一医院儿科,100034 [2]北京积水潭医院儿科

出　　处：《中华实用儿科临床杂志》2014年第4期299-302,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金（81171221）

摘　　要：目的 探讨Dravet综合征（DS）的早期临床特点和诊断要点.方法 收集DS患儿及其父母临床资料和外周血DNA,进行SCN1A基因突变筛查;回顾性分析187例SCN1A基因突变阳性的DS患儿1岁之前发作的特点,及诱发发作的因素.结果 本组187例DS患儿中,男103例,女84例.起病年龄2～12个月,中位起病年龄为6个月,其中73.8％（138/187例）的患儿首次发作年龄＜7个月.1岁之前曾有发热诱发发作持续时间＞ 15 min者占71.7％（134/187例）,＞30 min者占47.6％（89/187例）;24h内出现热性惊厥≥2次者占66.3％（124/187例）;83.4％（156/187例）的患儿曾出现半侧阵挛和（或）局灶性发作.具备2条复杂热性惊厥（CFS）特点者占41.2％（77/187例）,具备3条CFS特点者占41.2％（77/187例）.本组65.2％（122/187例）的患儿在1岁之前曾有低热诱发发作（体温＜ 38℃）,30.5％（57/187例）的患儿曾有疫苗接种诱发发作.31.6％（59/187例）的患儿1岁之前出现无热惊厥.结论 DS患儿热性惊厥起病年龄早,多数在出生7个月内.当患儿具备2条或2条以上CFS特点时,应高度怀疑DS的可能性,尽早进行SCN1A基因突变筛查.Dra-vet综合征的早期诊断有助于指导临床选择合适的抗癫（痫）药物.Objective To summarize the early clinical characteristics and diagnosis of patients with Dravet syndrome （DS）.Methods The clinical data and peripheral blood DNA of DS patients and their parents were collected.The features of seizures in 187 DS patients with SCN1A gene mutation were analyzed before the age of 1.Results Of the 187 DS patients,103 were male,and 84 were female.The age at the first seizure ranged from 2 to 12 months （median：6 months）.One hurdred and thirty-eight （73.8％,138/187 cases） of them experienced the first attack younger than 7 months after birth,71.7％ （134/187 cases） of the patients were identified febrile seizure duration more than 15 min,47.6％ （89/187 cases） of them suffering from attacks lasting more than 30 min,124 patients （66.3％,124/ 187 cass）were observed 2 or more seizures induced by fever within 24 hours,and 156 patients （83.4％,156/187 cases） were identified with hemi-clonic and/or focal seizures.Among the 3 features of complex febrile seizure,2 items were discovered in 41.2％ （77/187 cases） patients and 3 items in 41.2％ （77/187 cases）.Seizures had been triggered by fever of low degree （＜ 38 ℃） in 65.2％ （122/187 cases） patients before the first year of life.Fifty-seven （30.5％,57/187 cases） patients had the vaccine-related seizures.Fifty-nine （31.6％,59/187 cases） patients had attacks without fever before the age of 1.Conclusions The seizure onset age in DS patients is earlier than that in common febrile seizures.When a baby conforms to 2 or more features of complex febrile seizures,the diagnosis of DS was very likely considered,and SCN1A gene mutation screening should be done as early as possible.Early diagnosis of DS can help to choose appropriate antiepileptic drugs for the patients.

关 键 词：DRAVET综合征 SCN1A基因 突变 热性惊厥 诊断 

分 类 号：R742.1[医药卫生—神经病学与精神病学]