抗癫痫药高敏综合征临床特点与HLA-B＊1502基因的相关性  

Hypersensitivity syndrome reactions to antiepileptic drugs, clinical characteristic and association with HLA-B＊ 1502

作　　者：孙丹[1] 石奕武[2] 刘智胜[1] 廖卫平[2] 王芳琳[1] 吴革菲[1] 胡家胜[1] 何彩英[1] 

机构地区：[1]武汉市儿童医院神经内科,430016 [2]广州医学院神经病学研究所

出　　处：《中华医学杂志》2010年第39期2763-2766,共4页National Medical Journal of China

基　　金：基金项目：2009年湖北省自然科学基金（2009CDB099）

摘　　要：目的 研究抗癫痫药高敏综合征临床特点与HLA-B＊1502基因的相关性,探讨抗癫痫药物的个体化治疗.方法 对2007至2008年武汉市儿童医院神经内科收治的4例经临床诊断为抗癫痫药高敏综合征（AHS）患儿进行回顾性分析,其中应用卡马西平（CBZ）引致皮肤不良反应2例Stevens-Johnson综合征（SJS）1例、高敏综合征（HSS）1例 应用苯巴比妥致HSS 1例 应用奥卡西平（OXC）致SJS 1例.采用顺序特异性引物聚合酶链反应（PCR-SSP）检测以上息儿和未服用过抗癫痫药2名正常对照者HLA-B＊1502基因分型.结果 4例患儿均有发热、皮疹、黏膜损害及内脏损害,2例确诊为Stevens-Johnson综合征患儿伴有明显水疱形成.2例卡马西平和奥卡西平引致SJS的患儿HLA-B＊1502基因型阳性 另1例卡马西平和1例苯巴比妥引致HSS的患儿为非HLA-B＊1502基因型.结论 抗癫痫药高敏综合征多发生于服用抗癫痫药后1～2周,典型临床表现为发热、皮疹及内脏功能受累等.癫痫患者应用CBZ/OXC引致的SJS与HLA-B＊1502基因型有关,但不出现在HSS患者体内.Objective To investigate the cutaneous adverse reactions to antiepileptic drugs （AEDs）, clinical characteristic and the association with HLA-B ＊ 1502.Methods A retrospective analysis of four cases of antiepileptic drug hypersensitive syndrome（AHS）were performed on the basis of clinical data, cutaneous adverse reactions to carbamazepine（CBZ）（n = 2）including Stevens-Johnson syndrome （SJS）（n = 1）and hypersensitivity syndrome（HSS）（n = 1） phenobarbital-induced HSS（n = 1）and oxcarbazepine（OXC）-induced HSS（n = 1）.All patients received the examinations of polymerase chain reaction（PCR）with sequence specific primers to analyze HLA-B ＊ 1502.Two healthy subjects had no history of using antiepileptic drugs as the control.Results All patients had manifestations of fever,eruption, mucosal involvement and visceral injury.Two cases were diagnosed as Stevens-Johnson syndrome associated with apparent bullae formation.Genotype positive for HLA-B ＊ 1502 was association with 2 patients with CBZ/OXC-induced SJS while the other 1 case of CBZ and 1 case of phenobarbital-induced HSS were genotype non-HLA-B ＊ 1502.Conclusion AHS usually occurs within 1 to 2 weeks after initiation of AEDs therapy.The typical presentations are fever, eruption and internal organ involvements, etc.The epileptic patients with CBZ/OXC-induced SJS are related with HLA-B ＊ 1502 genotype.But it is not found in HSS patients.

关 键 词：抗惊厥药 高敏综合征 基因 HLA-B＊1502 

分 类 号：R686[医药卫生—骨科学]