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风湿科患者中由羟氯喹引起的急性泛发性脓疱性皮病的临床特征及基因突变探索

Clinical features of acute generalized exanthematous pustulosis caused by hydroxychloroquine in rheumatology patients and exploration of gene mutations.

作者信息

Luo Feng, Yuan Xue-Mei, Xiong Hong, Yang Yu-Zheng, Chen Chang-Ming, Ma Wu-Kai, Yao Xue-Ming

机构信息

Graduate School, Guizhou University of Traditional Chinese Medicine, Guiyang, China.

Department of Rheumatology and Immunology, Second Affiliated Hospital of Guizhou University of Chinese Medicine, Guiyang, China.

出版信息

Front Med (Lausanne). 2023 Apr 6;10:1161837. doi: 10.3389/fmed.2023.1161837. eCollection 2023.

Abstract

INTRODUCTION

Acute generalized exanthematous pustulosis (AGEP) is a rare condition characterized by superficial pustules following drug ingestion or infection. Currently, there is no clear link between rheumatism and AGEP. It has been described that hydroxychloroquine (HCQ) is a rare cause of acute generalized epidermal necrolysis (AGEP). Presently, there are limited studies on HCQ-induced AGEP. We aimed to explore the clinical features and associated gene expression of AGEP induced after HCQ treatment exposure in rheumatology patients.

METHODS

We assessed patients with HCQ-induced AGEP diagnosed at the Second Affiliated Hospital of Guizhou University of Chinese Medicine between January 1, 2017, and May 1, 2022. We also reviewed similar cases reported in specific databases.

RESULTS

The study included five females (mean age, 40.2 years), and the mean time from initiation of HCQ treatment to symptom onset was 12.2 d. All patients received steroids and allergy medications after HCQ discontinuation, and the rash completely resolved within an average of 25.2 d. We performed whole exome sequencing and Sanger validation in our patient sample. gene mutations were detected in three patients. Additionally, seven mutation sites were detected.

DISCUSSION

HCQ-induced AGEP may have a longer latency period and regression time than AGEP induced by other drugs. Our patients all experienced gene mutations. AGEP often resolves with topical therapy and drug discontinuation, although some cases require systemic steroid therapy. In the future, patients with rheumatism should pay attention to the effectiveness of HCQ during treatment and be aware of the associated skin toxicity.

摘要

引言

急性泛发性脓疱病(AGEP)是一种罕见疾病,其特征为在药物摄入或感染后出现浅表脓疱。目前,风湿病与AGEP之间尚无明确联系。已有描述称羟氯喹(HCQ)是急性泛发性表皮松解症(AGEP)的罕见病因。目前,关于HCQ诱发AGEP的研究有限。我们旨在探讨风湿病患者在接受HCQ治疗后诱发的AGEP的临床特征及相关基因表达。

方法

我们评估了2017年1月1日至2022年5月1日期间在贵州中医药大学第二附属医院诊断为HCQ诱发AGEP的患者。我们还回顾了特定数据库中报告的类似病例。

结果

该研究纳入了5名女性(平均年龄40.2岁),从开始使用HCQ治疗到症状出现的平均时间为12.2天。所有患者在停用HCQ后均接受了类固醇和抗过敏药物治疗,皮疹平均在25.2天内完全消退。我们对患者样本进行了全外显子组测序和桑格验证。在3名患者中检测到基因突变。此外,还检测到7个突变位点。

讨论

HCQ诱发的AGEP可能比其他药物诱发的AGEP具有更长的潜伏期和消退时间。我们的患者均经历了基因突变。AGEP通常通过局部治疗和停药得以缓解,尽管有些病例需要全身类固醇治疗。未来,风湿病患者在治疗期间应注意HCQ的疗效,并意识到其相关的皮肤毒性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab1/10117770/cc3f8d7aa790/fmed-10-1161837-g001.jpg

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