局灶性癫痫患儿HLA-B*1502等位基因与抗癫痫发作治疗的关系  

Relationship of HLA-B*1502 alleles in children with focal epilepsy and anti-seizure therapy

作　　者：董燕[1] 崔甲昱 梁瑞瑞 李怡 李梦春 赵世超 甘玲[1] 王丽君[1] 贾天明[1] DONG Yan;CUI Jiayu;LIANG Ruirui;LI Yi;LI Mengchun;ZHAO Shichao;GAN Ling;WANG Lijun;JIA Tianming(Department of Pediatrics,the Third Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第三附属医院儿科,郑州450052

出　　处：《郑州大学学报（医学版）》2024年第6期842-845,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：中国抗癫痫协会癫痫科研基金项目(CU-2022-002);河南省医学科技攻关项目(20190339);河南省儿童神经发育工程研究中心开放课题项目(SG201910);河南省小儿脑损伤重点实验室暨河南省儿科疾病临床医学研究中心开放课题项目(KFKT2021003)。

摘　　要：目的:探讨局灶性癫痫患儿HLA-B*1502等位基因检测与抗癫痫发作治疗的关系。方法:选择2017年6月至2020年6月于郑州大学第三附属医院就诊的局灶性癫痫并行HLA-B*1502等位基因检测的患儿138例,分析抗癫痫发作药物(ASM)的选择及药品不良反应(ADR)发生情况。结果:138例患儿中HLA-B*1502等位基因CC基因型(阴性组)117例(84.78%),CG或GC基因型(阳性组)21例(15.22%)。阴性组全部采用奥卡西平(OXC)治疗,控制率54.70%,有效率20.51%,无效率24.79%;其中10例(8.55%)存在ADR,减药或停药处理后症状均好转。21例阳性组患儿回避卡马西平,4例(19.05%)采用OXC治疗,17例(80.95%)采用非OXC治疗,采用OXC治疗的4例均未发现ADR。结论:HLA-B*1502等位基因检测阴性患儿使用OXC过程中仍需警惕ADR;阳性患儿也存在使用OXC的时机,但需小剂量缓慢滴定并观察有无ADR。Aim:To explore the relationship between HLA-B*1502 alleles and anti-seizure therapy in children with focal epilepsy.Methods:A total of 138 children with focal epilepsy were selected who underwent HLA-B*1502 genetic testing and were treated at the Third Affiliated Hospital of Zhengzhou University from June 2017 to June 2020.The selection of antiseizure medications(ASM),and occurrence of adverse drug reactions(ADR)were analyzed.Results:Among 138 patients,117(84.78%)were identified as HLA-B*1502 allele CC type(negative group),while 21(15.22%)were identified as CG or GC type(positive group).Patients in the negative group were all treated with oxcarbazepine(OXC),with a control rate of 54.70%,an effective rate of 20.51%,and an ineffective rate of 24.79%.Among them,10(8.55%)had ADR,and the symptoms improved after dose reduction or withdrawal.Among the positive group,all avoided carbamazepine,with 4(19.05%)treated with OXC and 17(80.95%)treated with other non-OXC drugs.The 4 cases treated with OXC had not reported ADR during follow-up.Conclusions:Children with the HLA-B*1502 allele CC genotype should remain vigilant for ADR during the use of OXC.For pediatric patients with the CG or GC type of HLA-B*1502 allele,there are indications for the use of OXC,but it should be initiated with a low dose and titrated slowly while monitoring for the presence of ADR.

关 键 词：局灶性癫痫 奥卡西平 HLA-B*1502 不良反应 

分 类 号：R742.1[医药卫生—神经病学与精神病学]