Pharmacy Degree, Faculty of Health Sciences, Universidad San Jorge, Villanueva de Gállego- Zaragoza, Spain.
Centro Neuropsiquiátrico Nuestra Señora del Carmen. Hermanas Hospitalarias, Zaragoza, Spain.
Pharmacogenomics. 2019 Aug;20(12):871-877. doi: 10.2217/pgs-2019-0074.
We report the case of a young Caucasian male with disorganized chronic schizophrenia, an active smoker and nonresponder to 400 mg of clozapine/day. Therapeutic clozapine monitoring was analyzed revealing a low clozapine:norclozapine ratio. An additional pharmacogenetic test was carried out showing that the patient carried variant ( gene), which has been associated with nonresponse to clozapine in smoker patients. A genetic variation in the gene was also found, which could be related to the poor response to clozapine. The remainder of the genes analyzed (, and ) were not directly associated with the patient's phenotype. The dose of clozapine was increased to 600 mg/day, reaching the therapeutic range. This case shows how pharmacogenetics can help in understanding the value of plasma levels to provide clinical improvement.
我们报告了一例患有精神分裂症的年轻白种人男性，其精神分裂症呈紊乱性慢性病程，为活跃吸烟者，且对 400mg 氯氮平/天的治疗无反应。对氯氮平的治疗性监测分析显示，氯氮平：去甲氯氮平比值较低。进行了额外的药物遗传学检测，结果显示患者携带了变异（基因），这与吸烟患者对氯氮平无反应有关。还发现了 基因的另一种遗传变异，这可能与氯氮平的不良反应有关。分析的其余基因（、和）与患者的表型无直接关系。氯氮平的剂量增加到 600mg/天，达到治疗范围。该病例表明，药物遗传学如何有助于理解血浆水平的价值，以提供临床改善。
