目的CYP3A4*18B基因多态性与卡马西平的疗效及不良反应的相关性。方法搜集我院2008至2010年服用卡马西平的癫痫患儿病例资料302例并分2组:正常组(无不良反应,200例)与不良反应组(发生不良反应,102例);测定患儿卡马西平稳态血药浓度及CYP3A4*18B基因型。结果2组间患者的年龄、体重指数、给药剂量、血药浓度、CYP3A4*18B等位基因及基因型分布频率均无显著性差异(P〉0.05);不良反应组,以GGT异常升高的病例为主。与总有效病例比较(36.8%),CYP3A4*18B等位基因频率在总无效病例中的比例升高(51.6%)。结论CYP3A4*18B与卡马西平耐药具有相关性,根据其基因型调整卡马西平给药方案,可改善疗效。
Objective To explore the correlation between CYP3A4 * 18B polymorphisms and effect, adverse drug reaction (ADR) of carbamazepine (CBZ). Methods Data of epileptic patients in our hospital during 2008 to 2010 were collected, divide into two groups based on their ADRs ( normal group with 200 cases and ADR group with 120 cases, respectively). The steady blood concentration of CBZ and detect their genotype of CYP3A4 * 18B were monitored. Results The data are not significant different between normal and ADR group, including age, BMI, dose of CBZ, steady blood concentration of CBZ, CYP3A4 * 18B allele and genotype (P 〉 0. 05). In ADR group, the majority of ADRs is the abnormally increased GGT. Compared with the total effective patients (36. 8% ) , frequency of CYP3A4 * 18B allele in total non -effective patients is higher (51.6%). Conclusion CYP3A4 * 18B polymorphisms may be correlated with resistance of CBZ. The treatment group may determine the protocols of CBZ based on the CYP3A4 * 18B genotype and improve the effect of CBZ.