CYP2D6 gene deletion allele in patients with neuroleptic malignant syndrome:: Preliminary report
CYP2D6 gene deletion allele in patients with neuroleptic malignant syndrome:: Preliminary report
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DOI：
10.1111/j.1440-1819.2005.01405.x
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发表时间：
2005-08-01
影响因子：
11.9
通讯作者：
Hirayasu, Y
中科院分区：
文献类型：
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作者：
Kato, D;Kawanishi, C;Hirayasu, Y
抗精神病药恶性综合征（NMS）是精神药物治疗的一种潜在致命不良反应。本文报道了2例精神分裂症NMS患者，发现其具有CYP 2D 6基因缺失等位基因（CYP 2D 6 *5）。缺失导致CYP 2D 6活性降低，可能导致药物蓄积。2例NMS患者均接受过抗精神病药物治疗，包括CYP 2D 6底物。采用聚合酶链反应（PCR）、限制性片段长度多态性分析和长链PCR检测CYP 2D 6基因型。一名患者被发现具有 *5/*10;另一名患者具有 *1/*5基因型。目前的初步报告表明，不能排除药代动力学因素，CYP 2D 6多态性可能与NMS的病因有关。
Neuroleptic malignant syndrome (NMS) is a potentially fatal adverse reaction to psychopharmacologic treatment. Reported herein are two NMS patients with schizophrenia who were found to possess a CYP2D6 gene deletion allele (CYP2D6*5). The deletion results in decreased CYP2D6 activity, possibly leading to drug accumulation. Both patients with NMS had been treated with neuroleptics, including CYP2D6 substrates. Polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analyses and long PCR were performed to detect CYP2D6 genotype. One patient was found to possess *5/*10; the other had a *1/*5 genotype. The present preliminary report suggests that pharmacokinetic factors cannot be excluded and the CYP2D6 polymorphism is possibly associated with the etiology of NMS.