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抗精神病药物匹莫齐特严重副作用的一个可能解释:基因缺失——病例报告

Deletion of the gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report.

作者信息

Facal Fernando, Portela Begoña, Gil-Rodríguez Almudena, Barros Francisco, Maroñas Olalla, Carracedo Angel

机构信息

Servizo de Psiquiatría, Complexo Hospitalario Universitario de Santiago de Compostela, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Galicia, Spain.

Grupo de Genética Psiquiátrica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, Spain.

出版信息

Front Pharmacol. 2023 Aug 10;14:1237446. doi: 10.3389/fphar.2023.1237446. eCollection 2023.

Abstract

analysis prior to the prescription of pimozide is required above a certain dose by the Food and Drug Administration in order to detect individuals with the poor metabolizer status. This precautionary measure aims to prevent the occurrence of serious adverse drug reactions. This study presents a case of a patient diagnosed with schizophrenia spectrum disorder. The patient suffered re-admission in the psychiatry ward because of severe secondary symptoms due to the antipsychotic drug pimozide, previously prescribed on a first admission. In order to assess the patient's medication profile, real-time PCR was performed to analyze the main genes responsible for its metabolization, namely, and . The pharmacogenetic study revealed that the patient is a poor metabolizer for , presenting deletion of both copies of the gene (diplotype *5/*5). Fortunately, the symptomatology disappeared after the withdrawal of the responsible drug. In conclusion, abiding by the pharmacogenetic clinical practice guidelines and the pharmacogenetic analysis of when prescribing pimozide would have probably saved the patient from the consequences of severe side effects and the health system expenditure. There is an important need for more training in the pharmacogenetic field for specialists in psychiatry.

摘要

美国食品药品监督管理局要求,在开具高于一定剂量的匹莫齐特之前进行分析,以检测代谢能力差的个体。这一预防措施旨在防止严重药物不良反应的发生。本研究报告了一例被诊断为精神分裂症谱系障碍的患者。该患者因之前首次入院时开具的抗精神病药物匹莫齐特导致的严重继发症状而再次入住精神科病房。为了评估患者的用药情况,进行了实时聚合酶链反应,以分析负责其代谢的主要基因,即[基因名称1]和[基因名称2]。药物遗传学研究表明,该患者是[基因名称1]的代谢能力差者,该基因的两个拷贝均缺失(双倍型*5/*5)。幸运的是,停用相关药物后症状消失。总之,在开具匹莫齐特时遵循药物遗传学临床实践指南并进行[基因名称1]的药物遗传学分析,可能会使患者免于严重副作用的后果以及卫生系统的支出。精神科专家在药物遗传学领域非常需要更多的培训。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32af/10448185/3b13cbd5d862/fphar-14-1237446-g001.jpg

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