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CYP2D6基因檢測在兒童心律失常治療中的價值

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  本文選題:CYP2D6 切入點(diǎn):基因多態(tài)性 出處:《青島大學(xué)》2017年碩士論文 論文類型:學(xué)位論文


【摘要】:目的:探討CYP2D6基因檢測在兒童心律失常治療中的價值。方法:選取2014年12月31日-2016年12月31日就診于青島大學(xué)附屬醫(yī)院小兒內(nèi)科,確診為心律失常且需抗心律失常藥物治療的79名患兒為研究對象,隨機(jī)分為基因檢測組37例,基因未檢測組患兒42例。采用PCR-RFLP方法檢測37例心律失;純篊YP2D6*10基因型,根據(jù)其結(jié)果調(diào)整藥物劑量。收集患兒一般情況、病因、心律失常類型、抗心律失常藥物總量、抗心律失常藥物平均劑量、治療時間等,分析治療效果、副總用發(fā)生率。結(jié)果:基因檢測組患兒最常見的CYP2D6*10基因型為突變雜合子,其次為突變純合子,野生型純合子最少,未見多拷貝的野生型純合子,整體基因突變率72.97%。相應(yīng)地,CYP2D6酶表型,最多見為中強(qiáng)代謝型,其次為弱代謝型,強(qiáng)代謝型少見,未見超強(qiáng)代謝型;驒z測組及基因未檢測組患兒在性別、年齡、病因、心律失常類型、抗心律失常藥物種類及治療前心臟超聲、心電圖、肝腎功能、血白細(xì)胞方面及副作用發(fā)生率方面無統(tǒng)計(jì)學(xué)差異(P0.05);驒z測組患兒抗心律失常藥物總量、平均劑量小于基因未檢測組(P0.05),抗心律失常藥物用藥時間短于基因未檢測組,但無明顯統(tǒng)計(jì)學(xué)差異(P0.05)。結(jié)論:CYP2D6*10最常見基因型為突變雜合子,酶活性以中強(qiáng)代謝型為主,酶活性影響部分抗心律失常藥物的代謝。CYP2D6基因檢測在兒童心律失常治療中指導(dǎo)個體化用藥、預(yù)測有效率、減少或避免不良反應(yīng)的發(fā)生上具有重要的價值。CYP2D6基因型對預(yù)測藥物有效率、治療療程方面有一定的價值。
[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.
【學(xué)位授予單位】:青島大學(xué)
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2017
【分類號】:R725.4

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