Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong
{"title":"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。","authors":"Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong","doi":"10.1136/bcr-2025-264874","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>AIRE</i>) 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 <i>AIRE</i> 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.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.\",\"authors\":\"Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong\",\"doi\":\"10.1136/bcr-2025-264874\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 (<i>AIRE</i>) 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 <i>AIRE</i> 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.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"18 5\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-05-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2025-264874\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2025-264874","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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.