Ferdiana Astri, Fachiroh Jajah, Oktarina Dyah Ayu Mira, Irwanto Astrid, Mahendra Caroline, Febriana Sri Awalia, Soebono Hardyanto
Department of Public Health Faculty of Medicine, Universitas Mataram, Mataram, Indonesia.
Center for Tropical Medicine, Faculty of Medicine Public Health and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia.
Front Genet. 2022 Jun 13;13:839154. doi: 10.3389/fgene.2022.839154. eCollection 2022.
Allopurinol is the most commonly used drug for the treatment of gout arthritis. However, the use of allopurinol is associated with severe cutaneous adverse reactions (SCARs) and life-threatening immune-mediated reactions that include Stevens-Johnson syndrome (SJS). SJS induced by allopurinol is strongly linked with the presence of in the Asian population. Such a study has not been conducted in Indonesia. We present two cases with clinical diagnosis of SJS. These patients had Javanese ethnicity, for which evidence on the genetic predisposition of allopurinol-induced SJS/TEN had not been established. Testing for the presence of the allele was positive in both cases. Our case report confirms findings from studies in Asian countries that link and allopurinol-induced SJS/TEN. A larger study is needed to elicit evidence that the allele can potentially be used as a genetic marker for allopurinol-induced SCARs among different ethnicities in Indonesia.
别嘌醇是治疗痛风性关节炎最常用的药物。然而，使用别嘌醇会引发严重的皮肤不良反应（SCARs）以及危及生命的免疫介导反应，其中包括史蒂文斯-约翰逊综合征（SJS）。在亚洲人群中，别嘌醇诱发的SJS与[此处原文缺失相关基因信息]的存在密切相关。印度尼西亚尚未开展此类研究。我们报告了两例临床诊断为SJS的病例。这些患者为爪哇族，此前尚无关于别嘌醇诱发SJS/TEN遗传易感性的证据。两例患者检测[此处原文缺失相关基因信息]等位基因均呈阳性。我们的病例报告证实了亚洲国家研究中关于[此处原文缺失相关基因信息]与别嘌醇诱发SJS/TEN之间关联的发现。需要开展更大规模的研究，以获取证据证明[此处原文缺失相关基因信息]等位基因有可能作为印度尼西亚不同种族中别嘌醇诱发SCARs的遗传标志物。
