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一名患有药物超敏反应综合征(DRESS)的男孩存在单核苷酸多态性(RS3758581)。

Presence of a single nucleotide polymorphism (RS3758581) in a boy with DRESS syndrome.

作者信息

Anil Hulya, Harmanci Koray, Tekin Rahmi T, Kocak Abdulkadir

机构信息

Department of Pediatric Allergy and Immunology, Eskisehir Osmangazi University Hospital, Meşelik, Turkey.

Department of Pediatrics, Eskisehir Osmangazi University Hospital, Meşelik, Turkey.

出版信息

Cent Eur J Immunol. 2017;42(4):409-411. doi: 10.5114/ceji.2017.72821. Epub 2017 Dec 30.

DOI:10.5114/ceji.2017.72821
PMID:29472822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5820983/
Abstract

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes rash, hematologic abnormalities, lymphadenopathy, and internal organ involvement. The pathogenesis of DRESS syndrome is partially understood. Various medications have been described as the cause of DRESS syndrome. Phenytoin and allopurinol are the most commonly reported culprit drugs, although more than 50 drugs can induce DRESS syndrome. Members of the cytochrome P450 (CYP) superfamily are the most commonly involved enzymes in metabolism of drugs such as phenytoin. This case report addresses the influence of CYP2C9 genetic polymorphism (a single nucleotide polymorphism) on phenytoin drug metabolism, thereby causing DRESS syndrome.

摘要

药物性皮疹伴嗜酸性粒细胞增多和全身症状(DRESS)综合征是一种罕见的、可能危及生命的药物诱导的超敏反应,包括皮疹、血液学异常、淋巴结病和内脏器官受累。DRESS综合征的发病机制部分已为人所知。多种药物被描述为DRESS综合征的病因。苯妥英和别嘌醇是最常报道的致病药物,尽管有50多种药物可诱发DRESS综合征。细胞色素P450(CYP)超家族成员是苯妥英等药物代谢中最常涉及的酶。本病例报告阐述了CYP2C9基因多态性(一种单核苷酸多态性)对苯妥英药物代谢的影响,从而导致DRESS综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b9/5820983/2aae1ba3cd53/CEJI-42-31521-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b9/5820983/2aae1ba3cd53/CEJI-42-31521-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2b9/5820983/2aae1ba3cd53/CEJI-42-31521-g001.jpg

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本文引用的文献

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Pharmacogenet Genomics. 2016 May;26(5):225-34. doi: 10.1097/FPC.0000000000000211.
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Genetic variants associated with phenytoin-related severe cutaneous adverse reactions.与苯妥英相关的严重皮肤不良反应相关的遗传变异。
JAMA. 2014 Aug 6;312(5):525-34. doi: 10.1001/jama.2014.7859.
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Cytochrome P450 2C9 gene polymorphism in phenytoin induced gingival enlargement: A case report.
细胞色素P450 2C9基因多态性与苯妥英钠所致牙龈增生:一例报告
J Pharm Bioallied Sci. 2013 Jul;5(3):237-9. doi: 10.4103/0975-7406.116828.
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Functional characterization of 32 CYP2C9 allelic variants.32种CYP2C9等位基因变体的功能特性
Pharmacogenomics J. 2014 Apr;14(2):107-14. doi: 10.1038/tpj.2013.22. Epub 2013 Jun 11.
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Successful Treatment of Antiepileptic Drug-Induced DRESS Syndrome with Pulse Methylprednisolone.脉冲式甲泼尼龙成功治疗抗癫痫药物所致的药物反应伴嗜酸性粒细胞增多和系统症状(DRESS)综合征
Case Rep Pediatr. 2013;2013:928910. doi: 10.1155/2013/928910. Epub 2013 Apr 18.
6
Six-year retrospective review of drug reaction with eosinophilia and systemic symptoms.药物反应伴嗜酸性粒细胞增多和全身性症状的 6 年回顾性分析。
Acta Derm Venereol. 2012 Mar;92(2):200-5. doi: 10.2340/00015555-1222.
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The DRESS syndrome: a literature review.药物反应伴嗜酸性粒细胞增多和全身性症状(DRESS)综合征:文献综述。
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