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卡马西平诱发携带阳性*基因的汉族患者发生史蒂文斯-约翰逊综合征:一例报告

[Carbamazepine induced Stevens-Johnson syndrome in Han Chinese with positive * gene: A case report].

作者信息

Xu Y Y, Sun Z L, Zhang X L, Liu Z L, Liu W, Guan X

机构信息

Department of Dermatology, Peking University Third Hospital, Beijing 100191, China.

Department of Pharmacy, Peking University Third Hospital, Beijing 100191, China.

出版信息

Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Aug 18;55(4):755-757. doi: 10.19723/j.issn.1671-167X.2023.04.030.

Abstract

Stevens-Johnson syndrome is a type of severe drug eruption, which is characterized by rapid onset and rapid progress. If not treated in time, it can develop into toxic epidermal necrolysis, even life-threatening. Common sensitizing drugs include sulfa, carbamazepine, etc. In China, reports and studies of carbamazepine causing Stevens-Johnson syndrome mainly focus on the * gene, and there are no reports of * gene positive. We reported a patient who got Stevens-Johnson syndrome with * gene positive caused by carbamazepine. She took carbamazepine for trigeminal neuralgia and had never taken the drug before. After 2 weeks, papules and edematous target-like erythema gradually appeared on the trunk and limbs, surface blisters and scabs, and the oral, eyes, and vulvar mucosa appeared erosion, accompanied by fever and pain, with an area of about 3% exfoliation. She was diagnosed with Stevens-Johnson syndrome and admitted to Peking University Third Hospital on March 24, 2020. After admission, in order to identify the sensitizing drugs, We performed a genetic test on her for carbamazepine-related drugs. The results showed that the * gene was positive, and the * and * genes were negative. In terms of treatment, the patient was systematically given a single intravenous infusion of 300 mg of infliximab, and symptomatic treatment and care of the oral, eye, and vulvar mucosa. After 6 days, the rash on the trunk and limbs subsided, and the mucosa returned to normal and was discharged from the hospital. Retrieving domestic and foreign literature, it is not uncommon to report that carbamazepine causes drug eruption, including severe drug eruption, and there are obvious ethnic differences in the pathogenicity of genotyping. In China and Asia, stu-dies on carbamazepine causing Stevens-Johnson syndrome emphasized that the adverse reactions were strongly related to the * gene. However, there is a strong correlation with * gene in people suffering from the disease in Europe and Japan. In this case report, the * gene was negative and the * gene was positive. This is the first domestic report that carba-mazepine causes * positive for Stevens-Johnson syndrome. This report reminds that * gene testing should be taken seriously besides * gene.

摘要

史蒂文斯 - 约翰逊综合征是一种严重的药物疹,其特点是起病急、进展快。若不及时治疗,可发展为中毒性表皮坏死松解症,甚至危及生命。常见的致敏药物包括磺胺类、卡马西平等。在中国,关于卡马西平引起史蒂文斯 - 约翰逊综合征的报道和研究主要集中在基因上,尚无基因阳性的报道。我们报告了1例因卡马西平导致基因阳性的史蒂文斯 - 约翰逊综合征患者。她因三叉神经痛服用卡马西平,此前从未服用过该药。2周后,躯干和四肢逐渐出现丘疹及水肿性靶形红斑,表面有水疱及结痂,口腔、眼及外阴黏膜出现糜烂,伴有发热及疼痛,剥脱面积约3%。她被诊断为史蒂文斯 - 约翰逊综合征,并于2020年3月24日入住北京大学第三医院。入院后,为明确致敏药物,我们对她进行了卡马西平相关药物的基因检测。结果显示基因阳性,基因阴性。治疗方面,患者接受了单次静脉输注300mg英夫利昔单抗的系统治疗,并对口腔、眼及外阴黏膜进行了对症治疗和护理。6天后,躯干和四肢皮疹消退,黏膜恢复正常,出院。检索国内外文献,卡马西平引起药物疹包括严重药物疹的报道并不少见,且基因分型的致病性存在明显种族差异。在中国和亚洲,关于卡马西平引起史蒂文斯 - 约翰逊综合征的研究强调不良反应与基因密切相关。然而,在欧洲和日本患该病的人群中与基因有很强的相关性。在本病例报告中,基因阴性而基因阳性。这是国内首例卡马西平导致史蒂文斯 - 约翰逊综合征阳性的报道。本报告提醒除基因外,还应重视*基因检测。

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