Kalla Pragya, Namerow Lisa B, Walker Sophia A, Ruaño Gualberto, Malik Salma
Institute of Living at Hartford Hospital, 200 Retreat Ave., Hartford, CT 06019, USA.
Department of Psychiatry, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Pharmacogenomics. 2023 Feb;24(3):131-139. doi: 10.2217/pgs-2022-0120. Epub 2023 Feb 2.
This case comparison illustrates pharmacogenetic testing in psychotropic and clinical management in relation to the gene, which encodes the P-glycoprotein transporter affecting blood-brain barrier (BBB) permeability. Two pediatric patients (9 and 11 years old) were selected for similar clinical presentations with opposing genotype, while they were identically matched for key CYP450, dopaminergic and serotonergic genes (, , , , ). Case A was functional for the gene ( rs1045642), suggesting that the BBB had a functional P-glycoprotein transporter. Case B was subfunctional for the gene ( rs1045642), suggesting that the patient's BBB may be permeable to psychotropic drugs. Case A had more medication trials and dose adjustments than Case B. Case A had two inpatient admissions and interspersed emergency room visits, while case B had none.
本病例对比说明了与该基因相关的精神药物遗传学检测在精神药物治疗和临床管理中的应用，该基因编码影响血脑屏障（BBB）通透性的P-糖蛋白转运体。选择了两名儿科患者（9岁和11岁），他们临床表现相似但基因型相反，同时在关键的CYP450、多巴胺能和5-羟色胺能基因（，，，，）方面完全匹配。病例A的该基因（rs1045642）功能正常，表明血脑屏障具有功能性P-糖蛋白转运体。病例B的该基因（rs1045642）功能欠佳，表明该患者的血脑屏障可能对精神药物具有通透性。病例A比病例B进行了更多的药物试验和剂量调整。病例A有两次住院治疗及穿插的急诊室就诊，而病例B则没有。
