Suppr超能文献

HLA B*15:02与卡马西平诱发的史蒂文斯-约翰逊综合征及中毒性表皮坏死松解症:尼泊尔首例病例报告及基因分析

HLA B*15:02 and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: first case report from Nepal with genetic analysis.

作者信息

Joshi Mandeep D, Acharya Bimarsh, Sapkota Surendra, Khati Karuna, Randuwini Dissanayake Dissanayake M L, Shah Sachin, Jawarchan Jayanti

机构信息

Manipal College of Medical Sciences, Pokhara, Nepal.

KIST Medical College and Teaching Hospital, Gwarko, Lalitpur, Nepal.

出版信息

Ann Med Surg (Lond). 2025 Jan 9;87(1):309-312. doi: 10.1097/MS9.0000000000002736. eCollection 2025 Jan.

Abstract

INTRODUCTION AND IMPORTANCE

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are the severe adverse drug reactions following drugs like carbamazepine, allopurinol, and infections. Here we present A 32-year-old woman developed SJS/TEN after 7 days of carbamazepine therapy, highlighting the importance of recognizing this risk, particularly in HLA-B*1502 allele carriers.

CASE PRESENTATION

A 32-year-old female developed fever, vomiting, and mucocutaneous blisters 7 days after starting carbamazepine. Lesions spread from the face to the chest, abdomen, and extremities, with throat discomfort and eye discharge. History included prior dizziness episodes. Examination revealed denuded skin, positive Nikolsky's sign, and HLA-B*1502 allele positivity. Treatment comprised ceasing carbamazepine, fluid administration, and steroids.

DISCUSSION

SJS/TEN manifest with distinct symptoms and often emerge within weeks of drug exposure. Carbamazepine, a frequent trigger, poses higher risks for HLA-B1502 allele carriers. Timely identification and intervention are essential to reduce mortality rates (10-40%). Treatment involves corticosteroids and supportive measures, with pre-carbamazepine HLA-B1502 screening advised, despite potential accessibility constraints.

CONCLUSION

This case underscores the necessity of recognizing carbamazepine-induced SJS/TEN risk, particularly in HLA-B*1502 carriers. Despite screening challenges, early intervention involving multidisciplinary specialists is essential for favorable outcomes. Increased awareness and proactive measures are vital in preventing and managing these severe reactions.

摘要

引言与重要性

史蒂文斯 - 约翰逊综合征(SJS)和中毒性表皮坏死松解症(TEN)是卡马西平、别嘌醇等药物以及感染后出现的严重药物不良反应。在此,我们报告一名32岁女性在接受卡马西平治疗7天后发生了SJS/TEN,强调了认识到这种风险的重要性,尤其是在HLA - B*1502等位基因携带者中。

病例介绍

一名32岁女性在开始服用卡马西平7天后出现发热、呕吐和皮肤黏膜水疱。皮疹从面部蔓延至胸部、腹部和四肢,伴有咽喉不适和眼部分泌物。既往史包括曾有头晕发作。检查发现皮肤剥脱、尼氏征阳性以及HLA - B*1502等位基因阳性。治疗包括停用卡马西平、补液和使用类固醇。

讨论

SJS/TEN表现出独特的症状,通常在药物暴露后数周内出现。卡马西平是常见的诱发因素,对HLA - B1502等位基因携带者具有更高风险。及时识别和干预对于降低死亡率(10 - 40%)至关重要。治疗包括使用皮质类固醇和支持措施,尽管可能存在可及性限制,但建议在服用卡马西平前进行HLA - B1502筛查。

结论

本病例强调了认识卡马西平诱发SJS/TEN风险的必要性,尤其是在HLA - B*1502携带者中。尽管存在筛查挑战,但早期由多学科专家进行干预对于取得良好结局至关重要。提高认识和采取积极措施对于预防和管理这些严重反应至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3b4/11918719/66c0d2967c85/ms9-87-309-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验