摘要
目的探讨西南地区儿童难治性癫痫的临床特点及与CYP3A4*1G基因多态性相关性。方法收集重庆医科大学附属儿童医院神经专科门诊诊断为药物难治性患儿(耐药组)83例,药物治疗有效患儿(有效组)87例,并应用聚合酶链反应-限制性片段长度多态性技术检测两组患儿CYP3A4*1G基因多态性。结果耐药组与有效组相比,1岁前发病率、局灶性和不确定的发作、结构性和代谢性病因、影像学异常及脑电图异常改变概率明显增高。在遗传性或者未知病因患儿中,耐药组突变纯合子及突变等位基因频率明显高于有效组,差异均有统计学意义(P<0.05)。结论在遗传性或者未知病因患儿中,筛查CYP3A4*1G基因型是指导抗癫痫药物选择,并判断、预测抗癫痫治疗效果的重要方法之一。
Objective To analyze the clinical features of drug resistance epilepsy of children in southwest China,and the single nucleotide polymorphisms of CYP3A4＊1G.Methods 83 out-patients children with drug resistant epilepsy（resistance group） and 87 children with drug effective epilepsy（effective group） were enrolled from department of neurology in Chongqing children′s hospital.Then we analyzed and compared them between two groups.CYP3A4＊1G genotypes were detected by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method in two groups.Results The incidence rate was significantly higher in resistance group than in effective group,especially in patients with onset before age 1,proportion of focal and uncertain seizures,structural and metabolic etiology,radiographic abnormalities and abnormal EEG.In the patients with hereditary or unknown etiology,the distribution of genotypes and allele frequencies of CYP3A4＊1G polymorphism in the resistance group were significant difference from the effective group（P〈0.05）.Conclusion In the patients with hereditary or unknown etiology,detecting CYP3A4＊1 G genotypes could be one of effective methods to choose antiepileptic drugs,to judge and predict treatment outcomes.
出处
《重庆医学》
CAS
CSCD
北大核心
2013年第3期263-265,共3页
Chongqing medicine
基金
重庆市卫生局医学科学技术研究项目(2009-2-254)
作者简介
李艳梅（1984-），医师，主要从事小儿神经内科疾病的研究。
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