卡马西平致中毒性表皮坏死松解症伴HLA-A*31:01阳性一例

doi:10.35541/cjd.20190951

中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (11): 917-919.doi: 10.35541/cjd.20190951

卡马西平致中毒性表皮坏死松解症伴HLA-A*31:01阳性一例

李丽娜¹ 张俊俊² 张守民¹

¹河南省人民医院郑州大学人民医院皮肤性病科 450003；²河南大学临床医学院，郑州 450003

收稿日期:2019-09-29 修回日期:2020-01-12 发布日期:2020-11-03
通讯作者: 李丽娜 E-mail:lilinaqiqi@163.com

Carbamazepine-induced toxic epidermal necrolysis in a patient with HLA-A*31:01 allele

Li Lina¹, Zhang Junjun², Zhang Shoumin¹

¹Department of Dermatology and Venereology, Henan Provincial People′s Hospital, People′s Hospital of Zhengzhou University, Zhengzhou 450003, China; ²School of Clinical Medicine, Henan University, Zhengzhou 450003, China

Received:2019-09-29 Revised:2020-01-12 Published:2020-11-03
Contact: Li Lina E-mail:lilinaqiqi@163.com

摘要/Abstract

摘要： 【摘要】目的探讨1例卡马西平致中毒性表皮坏死松解症（TEN）的易感基因类型。方法收集1例由卡马西平诱发的TEN患者临床资料，抽外周血提取DNA，应用荧光染色原位杂交技术检测卡马西平易感基因位点HLA-A*31:01（rs1633021）、HLA-B*58:01（rs3095318）、HLA-B*15:02（rs3909184）和HLA-B*15:02（rs2844682）。结果患者女，40岁，汉族，因口周红斑水疱7 d，泛发全身4 d就诊。患者出现皮损前曾应用卡马西平1个月。基因检测显示，HLA-B*15:02阴性，HLA-A*31:01阳性。结论本例中国汉族卡马西平致TEN患者HLA-A*31:01阳性。

关键词: 卡马西平, 表皮坏死松解症, 中毒性, HLA抗原, 疾病遗传易感性, HLA-A*31:01基因

Abstract: 【Abstract】 Objective To detect susceptibility genes for toxic epidermal necrolysis （TEN） caused by carbamazepine in a patient. Methods Clinical data and peripheral blood samples were collected from a patient with carbamazepine-induced TEN. DNA was extracted from the peripheral blood sample, fluorescence in situ hybridization was performed to detect susceptibility gene loci for carbamazepine-induced TEN, including HLA-A*31:01（rs1633021）, HLA-B*58:01（rs3095318）, HLA-B*15:02（rs3909184）and HLA-B*15:02 （rs2844682）. Results The 40-year-old female patient of Han nationality presented with perioral erythema andblisters for 7 days, which had spread all over the body for 4 days. The patient had been treated with carbamazepine for 1 month before the occurrence of skin lesions. Genetic testing showed that the patient was negative for HLA-B*15:02 allele, but positive for HLA-A*31:01 allele. Conclusion The Chinese patient of Han nationality with carbamazepine-induced TEN was positive for HLA-A*31:01 allele.

Key words: Carbamazepine, Epidermal necrolysis, toxic, HLA antigens, Genetic predisposition to disease, HLA-A*31:01 allele gene

李丽娜张俊俊张守民. 卡马西平致中毒性表皮坏死松解症伴HLA-A*31:01阳性一例[J]. 中华皮肤科杂志, 2020,53(11):917-919. doi:10.35541/cjd.20190951

Li Lina, Zhang Junjun, Zhang Shoumin. Carbamazepine-induced toxic epidermal necrolysis in a patient with HLA-A*31:01 allele[J]. Chinese Journal of Dermatology, 2020, 53(11): 917-919.doi:10.35541/cjd.20190951

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卡马西平致中毒性表皮坏死松解症伴HLA-A*31:01阳性一例

Carbamazepine-induced toxic epidermal necrolysis in a patient with HLA-A*31:01 allele

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