Department of Pediatric Surgery and Intensive Care, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands.
Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Pharmacogenomics. 2019 Jun;20(8):567-570. doi: 10.2217/pgs-2019-0037.
Pharmacogenetic analysis to explain or predict the response of a specific patient to drug therapy is increasingly used in clinical practice. This holds especially true for CYP genotyping in psychiatry. We present a patient with genetic polymorphisms in more than one CYP450 enzyme, resulting in reduced effectiveness of CYP enzymes, explaining the high drug serum trough levels of antipsychotics and antidepressants and difficulty in optimizing therapy and dosing. Mrs X was found to be a CYP1A2, CYP2D6, CYP3A4 intermediate and in addition a CYP2C19 poor metabolizer. For Mrs X, pharmacogenetic analysis has contributed to reconsider choice and use of medication. Prior knowledge of the genetic polymorphisms in this patient might have avoided treatment delay and discomfort.
药物遗传学分析越来越多地用于解释或预测特定患者对药物治疗的反应,尤其是在精神病学中的 CYP 基因分型方面。我们介绍了一位患者,其体内存在一种以上 CYP450 酶的遗传多态性,导致 CYP 酶的有效性降低,从而解释了抗精神病药和抗抑郁药的血清药物浓度低以及难以优化治疗和剂量的原因。X 女士被发现是 CYP1A2、CYP2D6、CYP3A4 中间代谢酶,此外还是 CYP2C19 弱代谢酶。对于 X 女士来说,药物遗传学分析有助于重新考虑药物的选择和使用。如果事先了解该患者的遗传多态性,可能会避免治疗延迟和不适。