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药物遗传学在注意缺陷多动障碍儿童治疗中的重要性:一例病例报告。

Importance of pharmacogenetics in the treatment of children with attention deficit hyperactive disorder: a case report.

作者信息

Tan-Kam Teerarat, Suthisisang Chutamanee, Pavasuthipaisit Chosita, Limsila Penkhae, Puangpetch Apichaya, Sukasem Chonlaphat

机构信息

Yuwaprasart Waithayopathum Child and Adolescent Psychiatric Hospital, Department of Mental Health Services, Ministry of Public Health.

出版信息

Pharmgenomics Pers Med. 2013;6:3-7. doi: 10.2147/PGPM.S36782. Epub 2013 Jan 11.

Abstract

This case report highlights the importance of pharmacogenetic testing in the treatment of attention deficit hyperactive disorder (ADHD). A 6-year-old boy diagnosed with ADHD was prescribed methylphenidate 5 mg twice daily (7 am and noon) and the family was compliant with administration of this medication. On the first day of treatment, the patient had an adverse reaction, becoming disobedient, more mischievous, erratic, resistant to discipline, would not go to sleep until midnight, and had a poor appetite. The All-In-One PGX (All-In-One Pharmacogenetics for Antipsychotics test for CYP2D6, CYP2C19, and CYP2C9) was performed using microarray-based and real-time polymerase chain reaction techniques. The genotype of our patient was identified to be CYP2D6*2/*10, with isoforms of the enzyme consistent with a predicted cytochrome P450 2D6 intermediate metabolizer phenotype. Consequently, the physician adjusted the methylphenidate dose to 2.5 mg once daily in the morning. At this dosage, the patient had a good response without any further adverse reactions. Pharmacogenetic testing should be included in the management plan for ADHD. In this case, cooperation between the medical team and the patients' relatives was key to successful treatment.

摘要

本病例报告强调了药物遗传学检测在注意力缺陷多动障碍(ADHD)治疗中的重要性。一名被诊断为ADHD的6岁男孩,被开了哌甲酯,每日两次,每次5毫克(上午7点和中午),其家人按医嘱用药。治疗第一天,患者出现不良反应,变得不听话、更调皮、行为不稳定、抗拒管教、直到午夜才入睡且食欲不佳。使用基于微阵列和实时聚合酶链反应技术进行了全合一PGX检测(用于检测CYP2D6、CYP2C19和CYP2C9的抗精神病药物全合一药物遗传学检测)。确定该患者基因型为CYP2D6*2/*10,该酶的亚型与预测的细胞色素P450 2D6中间代谢型表型一致。因此,医生将哌甲酯剂量调整为每日早上一次,每次2.5毫克。在此剂量下,患者反应良好,未出现任何进一步的不良反应。药物遗传学检测应纳入ADHD的管理计划。在本病例中,医疗团队与患者亲属之间的合作是成功治疗的关键。

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Metabolic, toxicological, and safety considerations for drugs used to treat ADHD.用于治疗 ADHD 的药物的代谢、毒理学和安全性考虑。
Expert Opin Drug Metab Toxicol. 2012 May;8(5):543-52. doi: 10.1517/17425255.2012.671295. Epub 2012 Mar 13.
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Genomics and personalized medicine.基因组学与个性化医疗。
Int J Pharm. 2011 Aug 30;415(1-2):2-4. doi: 10.1016/j.ijpharm.2011.04.048. Epub 2011 Apr 23.

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