目的 考察CYP2D6基因多态性对阿立哌唑治疗儿童抽动障碍的体内药物浓度和临床疗效的影响。方法 选取2021年1月—2022年5月就诊于华中科技大学同济医学院附属武汉儿童医院儿童保健科的抽动障碍患儿作为研究对象，患儿上午口服阿立哌唑片，分别于治疗前和治疗第4、8周后观察并记录患儿的临床疗效和出现的不良反应。治疗达稳态后采集血液样本，检测阿立哌唑、脱氢阿立哌唑血药浓度和CYP2D6基因多态性。结果 超快代谢型、快速代谢型和中速代谢型3组之间阿立哌唑的C/D值、YGTSS减分率、有效率存在统计学差异（P＜0.05），不良反应发生率无统计学差异。结论 CYP2D6基因多态性能够显著影响阿立哌唑治疗儿童抽动障碍的血药浓度和临床疗效，为实现个体化给药提供参考

Objective To investigate the effect of CYP2D6 gene polymorphism on aripiprazole concentration and clinical efficacy in children with tic disorders treated with aripiprazole. Methods Children with tic disorders who were admitted to the Department of Child Health, Wuhan Children's Hospital, Tongji Medical College, from January 2021 to May 2022. Children were po administered with Aripiprazole Tablets in the morning, and the clinical efficacy and adverse reactions were observed and recorded before treatment and after 4 and 8 weeks of treatment. Blood samples were collected after reaching a stable state of treatment, and the serum concentrations of aripiprazole, dehydroariprazole, and CYP2D6 gene polymorphism were detected. Results There were statistically significant differences in the concentration/daily dosage per kilogram (C/D) value, YGTSS reduction rate, and effective rate of aripiprazole among ultra-rapid metabolizers groups, extensive metabolizers groups, and intermediated metabolizers groups (P < 0.05), while there was no statistically significant difference in the incidence of adverse reactions among three groups. Conclusion CYP2D6 gene polymorphism could significantly affect the serum concentration and clinical efficacy of aripiprazole in treatment of children with tic disorders, which could provide reference for clinical individualized medicine.

R971

国家重点研发计划（2016YFC1306202）;湖北省科技计划立项项目（2022DCC020）;武汉市医学科研项目面上项目（WX21A14）