CYP2D6基因检测在儿童心律失常治疗中的价值

发布时间：2018-03-20 16:30

本文选题：CYP2D6　切入点：基因多态性　出处：《青岛大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:探讨CYP2D6基因检测在儿童心律失常治疗中的价值。方法:选取2014年12月31日-2016年12月31日就诊于青岛大学附属医院小儿内科,确诊为心律失常且需抗心律失常药物治疗的79名患儿为研究对象,随机分为基因检测组37例,基因未检测组患儿42例。采用PCR-RFLP方法检测37例心律失常患儿CYP2D6*10基因型,根据其结果调整药物剂量。收集患儿一般情况、病因、心律失常类型、抗心律失常药物总量、抗心律失常药物平均剂量、治疗时间等,分析治疗效果、副总用发生率。结果:基因检测组患儿最常见的CYP2D6*10基因型为突变杂合子,其次为突变纯合子,野生型纯合子最少,未见多拷贝的野生型纯合子,整体基因突变率72.97%。相应地,CYP2D6酶表型,最多见为中强代谢型,其次为弱代谢型,强代谢型少见,未见超强代谢型。基因检测组及基因未检测组患儿在性别、年龄、病因、心律失常类型、抗心律失常药物种类及治疗前心脏超声、心电图、肝肾功能、血白细胞方面及副作用发生率方面无统计学差异(P0.05)。基因检测组患儿抗心律失常药物总量、平均剂量小于基因未检测组(P0.05),抗心律失常药物用药时间短于基因未检测组,但无明显统计学差异(P0.05)。结论:CYP2D6*10最常见基因型为突变杂合子,酶活性以中强代谢型为主,酶活性影响部分抗心律失常药物的代谢。CYP2D6基因检测在儿童心律失常治疗中指导个体化用药、预测有效率、减少或避免不良反应的发生上具有重要的价值。CYP2D6基因型对预测药物有效率、治疗疗程方面有一定的价值。
[Abstract]:Objective: to evaluate the value of CYP2D6 gene detection in the treatment of arrhythmia in children. 79 children who were diagnosed as arrhythmia and needed antiarrhythmic drugs were randomly divided into gene detection group (n = 37) and gene undetected group (n = 42). CYP2D6*10 genotypes were detected by PCR-RFLP method in 37 patients with arrhythmia. According to the results, the drug dosage was adjusted. The general situation, etiology, type of arrhythmia, total amount of antiarrhythmic drugs, average dose of antiarrhythmic drugs, treatment time, etc., were collected to analyze the therapeutic effect. Results: mutation heterozygote was the most common CYP2D6*10 genotype, followed by mutant homozygote, wild type homozygote was the least, and no multiple copies of wild type homozygote were found in the gene detection group. The overall mutation rate of CYP2D6 was 72.97.The phenotype of CYP2D6 was the most common, followed by weak metabolic type, strong metabolic type was rare, and no hypermetabolic type was found. There was no significant difference in arrhythmia type, antiarrhythmic drugs, heart ultrasound, ECG, liver and kidney function, blood leukocyte and side effects before treatment (P 0.05). The total amount of antiarrhythmic drugs in gene detection group was higher than that in control group (P < 0. 05). The average dose was less than that in the undetected gene group (P 0.05), and the antiarrhythmic drug use time was shorter than that in the gene undetected group, but there was no significant difference between the two groups (P 0.05). Conclusion the most common genotype of CYP2D6 / 10 is mutant heterozygote, and the enzyme activity is mainly of medium and strong metabolic type. Enzyme activity affects metabolism of some antiarrhythmic drugs. CYP2D6 gene detection can guide individualized drug use in the treatment of arrhythmia in children and predict the effective rate. It has important value to reduce or avoid adverse reactions. CYP2D6 genotype can predict the effective rate of drugs and has certain value in treatment course.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R725.4

【参考文献】