延迟诊断自身免疫性多内分泌病-念珠菌病-外胚层营养不良(APECED)在越南青少年男性低血压表现。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong
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引用次数: 0

摘要

自身免疫性多内分泌病-念珠菌病-外胚层营养不良(APECED),被称为1型自身免疫性多腺体综合征,主要见于欧洲血统的患者。APECED是由自身免疫调节(AIRE)基因突变引起的一种罕见疾病。我们报告第一例APECED在越南男孩谁提出低血压由于肾上腺危机导致意外诊断APECED。临床表现典型,有皮肤黏液念珠菌病、甲状旁腺功能减退、肾上腺功能不全。DNA测序结果显示,c.769C >t变异具有纯合性,这是AIRE基因最常见的变异之一。他的症状在肾上腺激素替代疗法、骨化三醇和钙补充剂治疗甲状旁腺功能低下和口服氟康唑治疗甲癣后得到改善。鉴于APECED在亚洲人群和其他非欧洲人群中罕见,容易误诊,导致忽视危及生命的并发症,儿科医生应注意这些人群中出现与皮肤粘膜念珠菌病或任何内分泌病变相关的不明原因低血压的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), known as autoimmune polyglandular syndrome type 1, has largely been described in patients of European origin. APECED is a rare condition caused by mutations in the autoimmune regulator (AIRE) gene. We report the first case of APECED in a Vietnamese boy who presented with hypotension due to adrenal crisis leading to the accidental diagnosis of APECED. His clinical manifestations were typical, with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. DNA sequencing showed homozygosity for the c.769C>T variant, which is one of the most common variants of the AIRE gene. His symptoms improved with adrenal hormone replacement therapy, calcitriol and calcium supplements for hypoparathyroidism and oral fluconazole for onychomycosis. Given that APECED is easily misdiagnosed due to its rarity in Asian population and other non-Europeans, leading to overlooked life-threatening complications, paediatricians should be aware of APECED in patients from these populations presenting with unexplained hypotension associated with mucocutaneous candidiasis or any endocrinopathy manifestation.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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