Dravet综合征670例患儿预后随访研究  

Prognosis and follow-up study of 670 pediatric patients with Dravet syndrome

作　　者：田小娟[1,2] 张月华 许小菁[1] 杨小玲[1] 刘爱杰[1] 曾琦[1] 张静[1] 杨莹[1] 姜玉武 Tian Xiaojuan;Zhang Yuehua;Xu Xiaojing;Yang Xiaoling;Liu Aijie;Zeng Qi;Zhang Jing;Yang Ying;Jiang Yuwu(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Department of Neurology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]北京大学第一医院儿科,100034 [2]国家儿童医学中心,首都医科大学附属北京儿童医院神经内科,100045

出　　处：《中华实用儿科临床杂志》2020年第12期890-893,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81171221);国家科技部重大研究专项(2016YFC0904400,2016YFC0904401)。

摘　　要：目的通过对670例Dravet综合征(DS)患儿进行随访,对其预后进行总结。方法收集2005年2月至2016年8月在北京大学第一医院儿科就诊的DS患儿,建立临床资料登记表,完善基因检查。通过门诊复诊及电话随访的方式对DS患儿的预后进行随访。结果670例DS患儿中,存在SCN1A突变者556例(556/670例,83.0%),随访608例(90.7%,608/670例),失访62例(失访率为9.3%,62/670例);末次随访中位年龄8岁5个月。82例(82/608例,13.5%)发作曾控制1年以上,中位随访年龄9岁2个月。其中38例再次出现发作(38/82例,46.3%),主要诱发因素为发热(34例)或漏服抗癫痫药物(2例)。分析发作曾控制1年以上的相关因素,发现携带SCN1A错义突变者、遗传性突变者、年龄相对较大者发作控制相对较好。随访的608例患儿中,死亡25例(25/608例,4.1%),发生死亡的中位年龄为4岁;12例因病程中出现长时间的癫痫持续状态,并多器官衰竭死亡。7例为可能的癫痫猝死,2例为呕吐窒息死亡,1例外伤后死亡,余3例死因不详。结论DS为难治性癫痫,但少数患儿发作可控制1年以上,携带SCN1A错义突变者、遗传性突变者、年龄相对较大者发作控制相对较好。DS病死率高,死亡原因主要为癫痫持续状态后多脏器衰竭和可能的癫痫猝死。Objective To follow up and clarify the prognosis of 670 pediatric patients with Dravet syndrome(DS).Methods The clinical data of DS pediatric patients treated in the Department of Pediatrics,Peking University First Hospital from February 2005 to August 2016 were recorded,and genetic testing was carried out.DS pediatric patients were followed up via subsequent visits at the outpatient and telephone interview.Results Among 670 cases with DS,556 cases(556/670 cases,83.0%)carried SCN1A mutations.In the follow-up,608 cases were contacted(608/670 cases,90.7%)and 62 cases(62/670 cases,9.3%)were lost.The last follow-up median age was 8 years 5 months.Eighty-two cases(82/608 cases,13.5%)were seizure-free for more than 1 year,with a median age of 9 years and 2 months.Thirty-eight cases relapsed(38/82 cases,46.3%),mainly induced by fever(34 cases)or mi-ssing antiepileptic drugs(2 cases).Analysis of the relative factors of patients that were seizure-free for more than 1 year showed that children with missense SCN1A mutations,inherited mutations and an older age had a relatively good outcome for seizure control.Twenty-five cases(25/608 cases,4.1%)were deceased,with a median age of 4 years.The mortality factors included multiple organ dysfunction syndromes after prolonged status epilepticus(12 cases),possible sudden unexpected death in epilepsy(7 cases),asphyxiation after vomiting with or without a seizure(2 cases),and an accidental injury(1 case).The fatal causes in the remaining 3 cases were unknown.Conclusions DS is an intractable epileptic syndrome,but few patients may have a seizure remission(seizure free for more than 1 year).Patients with mi-ssense SCN1A mutations,inherited mutations and an older age have a relatively good outcome for seizure control.The mortality rate is high in DS patients.The causes of mortality include multiple organ dysfunction syndromes after prolonged status epilepticus,possible sudden unexpected death in epilepsy,and so on.

关 键 词：DRAVET综合征 发作 预后 死亡 

分 类 号：R742.1[医药卫生—神经病学与精神病学]