Biopharmacy, Department of Pharmaceutical Sciences, University of Basel, 4056, Basel, Switzerland.
Pharmaceutical Care, Department of Pharmaceutical Sciences, University of Basel, 4001, Basel, Switzerland.
Pharmacogenomics. 2020 Nov;21(16):1145-1150. doi: 10.2217/pgs-2020-0087. Epub 2020 Oct 30.
We report the case of a patient with major depression treated with high-dose bupropion due to prior detected subtherapeutic blood concentrations at standard dosing. Pharmacogenetic panel testing identified the patient as a carrier of the *6 allele, which has been associated with reduced bupropion metabolism and decreased concentrations of the pharmacologically active metabolite hydroxybupropion. Interestingly, we also found the patient to be homozygous for the *17 allele, predicting an ultra rapid metabolizer phenotype. We propose a combined effect of the detected and genetic variants on bupropion metabolism. This case underlines the potential benefit of pre-emptive pharmacogenotyping but also the yet still fragmentary evidence making precise pharmacogenotype guided antidepressant selection and dosing challenging.
我们报告了一例因标准剂量下先前检测到的亚治疗血药浓度而使用高剂量安非他酮治疗的重度抑郁症患者。药物遗传学基因检测发现该患者为6 等位基因携带者，该等位基因与安非他酮代谢减少和具有药理活性的羟安非他酮浓度降低有关。有趣的是，我们还发现该患者为17 等位基因的纯合子，预测为超快代谢表型。我们提出了检测到的和基因变异对安非他酮代谢的综合影响。该病例强调了预先进行药物遗传学检测的潜在益处，但仍存在证据碎片化的问题，使得基于精确药物遗传学的抗抑郁药选择和剂量调整具有挑战性。
