SI "INSTITUTE OF NEUROLOGY, PSYCHIATRY AND NARCOLOGY, NAMS OF UKRAINE", KHARKIV, UKRAINE.
V.N. KARAZIN KHARKIV NATIONAL UNIVERSITY, KHARKIV, UKRAINE.
Wiad Lek. 2023;76(5 pt 1):1007-1013. doi: 10.36740/WLek202305118.
The aim: To clarify the frequency with which various variants of the formation and course of drug-resistant epilepsy occur in children with genetic polymor¬phisms of cytochromes CYP2C9, CYP2C19, CYP3A4.
Materials and methods: The genotyping of CYP2C92, CYP2C93, CYP2C192, CYP3A41B by the allele-specific polymerase chain reaction was performed in 116 children with drug-resistant epilepsy aged from 2 to 17 years. Thirty cases (boys-15; girls-15) with a follow-up period of more than 5 years were analyzed in detail.
Results: Of 30 cases analyzed, polymorphisms were not detected in 8 (26.67%) children, and 22 (73.33%) had polymorphisms of the CYP2C9, CYP2C19 and CYP3A4 genes associated with a slow metabolism of AED. In children with polymorphisms of the CYP450 genes, the wave-like course of the disease with the periods of remission and its failures was characteristic, while for children with a presumably normal metabolism there was the initial resistance to the treatment with AED.
Conclusions: Individual changes in the AED metabolism affect the course of drug-resistant epilepsies. For patients with a slow metabolism of AED the wave-like course of the disease and the "slipping off" phenomenon were more characteristic.
明确细胞色素 CYP2C9、CYP2C19、CYP3A4 基因遗传多态性的儿童中耐药性癫痫形成和发展的各种变异形式的发生频率。
对 116 例年龄在 2 至 17 岁的耐药性癫痫儿童进行 CYP2C92、CYP2C93、CYP2C192、CYP3A41B 等位基因特异性聚合酶链反应的基因分型。对 30 例（男孩 15 例，女孩 15 例）随访时间超过 5 年的患者进行了详细分析。
在分析的 30 例中，8 例（26.67%）儿童未检测到多态性，22 例（73.33%）存在与 AED 代谢缓慢相关的 CYP2C9、CYP2C19 和 CYP3A4 基因多态性。在 CYP450 基因多态性的儿童中，疾病呈波浪状过程，伴有缓解期和失败期，而对于代谢正常的儿童，初始时对 AED 治疗有抵抗。
个体对 AED 代谢的改变影响耐药性癫痫的病程。对于 AED 代谢缓慢的患者，疾病呈波浪状过程，且“滑脱”现象更为明显。
