吡仑帕奈辅助治疗遗传性癫痫儿童的临床疗效及安全性研究  

Efficacy and safety of perampanel add-on therapy in children with epilepsy of genetic etiology

作　　者：易珈沁 孙丹[1] YI Jia-Qin;SUN Dan(Department of Neurology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430016,China)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院神经内科,湖北武汉430016

出　　处：《中国当代儿科杂志》2025年第2期171-175,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：目的分析吡仑帕奈(perampanel,PER)添加治疗遗传性癫痫患儿的疗效及安全性。方法回顾性分析2020年11月—2023年4月就诊于武汉儿童医院神经内科,给予PER添加治疗并经全外显子组测序确定为遗传性病因的53例癫痫患儿的临床资料。主要结局指标为PER治疗12个月时发作频率较基线减少≥50%的患儿比例(即有效率),次要结局指标为PER治疗3、6个月时的有效率。分析PER添加治疗遗传性癫痫疗效的影响因素,观察不良反应。结果中位随访时长13.10个月,随访12个月时共42例患儿纳入分析,男性25例(60%),女性17例(40%)。PER中位起始剂量为1.5(1.0,2.0)mg/d,中位维持剂量为4.0(3.0,8.0)mg/d。PER在治疗3、6、12个月有效率为61%(30/49)、54%(25/46)及48%(20/42),编码不同蛋白质功能的基因突变患儿的PER疗效比较差异无统计学意义(P>0.05)。最常见药物不良反应为疲乏(3例,6%)。结论PER添加治疗遗传性癫痫患儿有较好疗效及安全性,暂未发现影响PER疗效的相关因素。Objective To investigate the efficacy and safety of perampanel(PER)add-on therapy in children with epilepsy of genetic etiology.Methods A retrospective analysis was conducted on the clinical data of 53 children who attended the Department of Neurology,Wuhan Children's Hospital,from November 2020 to April 2023.All children received PER add-on therapy and were diagnosed with epilepsy of genetic etiology based on whole-exome sequencing.The primary outcome measure was the proportion of children with a reduction in seizure frequency of≥50%at month 12 of PER treatment(i.e.,response rate),and the secondary outcome measures were response rates at months 3 and 6 of treatment.The influencing factors for the efficacy of PER add-on therapy in the treatment of epilepsy of genetic etiology were analyzed,and adverse events were recorded.Results The median follow-up duration was 13.10 months.After 12 months of follow-up,42 children were included in the analysis,comprising 25 boys(60%)and 17 girls(40%).The median initial dose of PER was 1.5(1.0,2.0)mg/d,and the median maintenance dose was 4.0(3.0,8.0)mg/d.The response rates to PER at months 3,6,and 12 of treatment were 61%(30/49),54%(25/46),and 48%(20/42),respectively.No significant difference in the efficacy of PER was observed between children with mutations in genes encoding different protein functions(P>0.05).The most common adverse event reported was fatigue,observed in 3 children(6%).Conclusions PER add-on therapy demonstrates good efficacy and safety in children with epilepsy of genetic etiology.No influencing factors for the efficacy of PER have been identified to date.

关 键 词：癫痫 吡仑帕奈 添加治疗 儿童 

分 类 号：R74[医药卫生—神经病学与精神病学]