Skryabin Valentin Y, Zastrozhin Michael, Sychev Dmitry A
Department No. 2, Moscow Research and Practical Centre on Addictions, Moscow, RUS.
Laboratory of Genetics and Fundamental Studies, Moscow Research and Practical Centre on Addictions, Moscow, RUS.
Cureus. 2021 Jan 8;13(1):e12568. doi: 10.7759/cureus.12568.
This paper presents the case of a 20-year-old patient with a suspected diagnosis of paranoid schizophrenia. He was prescribed oral olanzapine at a dose of 10 mg per day, and the treatment was associated with rhabdomyolysis (serum creatine kinase = 9,725 U/L on day four of the therapy). On suspicion of its contribution to rhabdomyolysis, olanzapine was immediately withdrawn. Pharmacogenetic testing demonstrated that the patient's genotype was . Based on these results, the patient was switched to trifluoperazine, a medication that is not metabolized by the CYP2D6 isoenzyme. Subsequently, the patient recovered well and was discharged without any nephrological sequelae. The presented case demonstrates that pharmacogenetic-guided personalization of treatment may allow selecting the best medication and determining the right dosage, resulting in the reduced risk of adverse drug reactions and pharmacoresistance.
本文介绍了一名20岁疑似偏执型精神分裂症患者的病例。他每天口服10毫克奥氮平，治疗过程中出现横纹肌溶解（治疗第4天时血清肌酸激酶=9725 U/L）。怀疑奥氮平与横纹肌溶解有关，遂立即停用。药物遗传学检测显示患者的基因型为 。基于这些结果，该患者改用三氟拉嗪，这是一种不由CYP2D6同工酶代谢的药物。随后，患者恢复良好，出院时无任何肾脏后遗症。该病例表明，药物遗传学指导下的个体化治疗可有助于选择最佳药物并确定合适剂量，从而降低药物不良反应和耐药性的风险。
