遗传性癫痫伴热性惊厥附加症患儿临床资料及遗传特征分析  

Analysis of clinical data and genetic characteristics in children with genetic epilepsy with febrile seizures plus

作　　者：刘伟荣[1] 姚银萍 蒋涛[1] 章杭湖[1] 胡佳妮 邵晓丽[1] LIU Wei-rong;YAO Yin-ping;JIANG Tao;ZHANG Hang-hu;HU Jia-ni;SHAO Xiao-li(Department of Pediatrics,Shaoxing People's Hospital,Shaoxing,Zhejiang 312000,China)

机构地区：[1]绍兴市人民医院小儿内科,浙江绍兴312000

出　　处：《中华全科医学》2021年第5期809-811,816,共4页Chinese Journal of General Practice

基　　金：浙江省医药卫生科技项目(2020KY327)。

摘　　要：目的对遗传性癫痫伴热性惊厥附加症(GEFS^(+))患儿的流行病学、临床及家族遗传学进行调查和分析。方法选择绍兴市人民医院儿科1 435例癫痫(epilepsies)患儿分析GEFS^(+)发病率、临床及流行病学,并考察家族遗传特征。结果 GEFS^(+)患儿发病率为3.07%(44/1 435);调查共获得29个家系、成员362名(除外44例患儿),受累者占59.12%(214/362)。86.36%(38/44)的GEFS^(+)患儿首次惊厥发作为发热性,其后为无热或低热性;22.90%(49/214)的家系受累成员首次惊厥发作为发热性,其后为无热性。GEFS^(+)患儿头颅MRI检查颞叶异常占11.54%(3/26),家系受累成员为12.63%(12/95);患儿视频脑电图(VEEG)检查显示,23.08%(3/13)存在颞部放电,家系受累成员为20.0%(11/55)。全部家系成员中93.46%(200/214)为GEFS^(+),1.87%(4/214)为特发性全面性癫痫,4.67%(10/214)不能明确分类;75.97%(196/258)为连续遗传,44.57%(115/258)为父(母)-子的家系遗传,21.71%(56/258)为隔代遗传,10.47%(27/258)为双系遗传。结论部分GEFS^(+)患儿即使经规范性治疗仍将发展为难治性癫痫,其家系受累成员中FS或FS^(+)发病率较高,主要以常染色体不完全显性遗传可能性大。Objective To investigate and analyse the epidemiology,clinical characteristics and family genetics of chil-dren with genetic epilepsy with febrile seizure plus(GEFS+).Methods A total of 1435 children with epilepsy who were admitted to Shaoxing People's Hospital were selected.The incidence rate,epidemiology and clinical characteristics of GEFS+and their family members were analysed.Results Among the 1435 epileptic children,the incidence rate of GEFS+was 3.07%(44/1435).A total of 362 family members(excluding 44 GEFS+affected children)were obtained from 29 families and family members,of whom 214(59.12%)were affected.In 44 cases of GEFS+children,86.36%(38/44)of the first convulsive seizure occurred as febrile and followed by afebrile or low fever.Among the family mem-bers involved,22.90%(49/214)of the first convulsions occurred as febrile;the later convulsions,without fever or with lower degree of fever.Head MRI examination was conducted in 44 cases of GEFS+,the incidence of temporal lobe ab-normalities accounted for 11.54%(3/26)in the children with GEFS^(+)and for 12.63%(12/95)in the affected family members.Video EEG monitoring test(VEEG)examination was conducted in 44 cases of GEFS+,23.08%(3/13)were with temporal discharge,and among the affected family members was 20.0%(11/55).Among all the family mem-bers,93.46%(200/214)were GEFS^(+),1.87%(4/214)were idiopathic generalised epilepsy and 4.67%(10/214)could not be classified clearly.In addition,75.97%(196/258)were continuous inheritance,44.57%(115/258)were paternal(mother)-child family inheritance,21.71%(56/258)were intergenerational inheritance and 10.47%(27/258)were two line inheritance(maternal and paternal inheritance).Conclusion Some children with GEFS+will devel-op into refractory epilepsy after clinical standard treatment.The incidence rate of FS or FS+in family members is high,and the possibility of autosomal dominant inheritance is high.

关 键 词：癫痫 遗传性癫痫伴热性惊厥附加症 热性惊厥发作 家族遗传学 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]