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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.

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

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