{"title":"土耳其儿童因 ALB 基因 Arg242 His 变异而患家族性白蛋白血症性高甲状腺素血症 (FDH)。","authors":"Doga Turkkahraman, Merve Gullu, Suat Tekin, Tarkan Kalkan","doi":"10.1515/jpem-2023-0506","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To investigate albumin (<i>ALB</i>) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).</p><p><strong>Methods: </strong>Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.</p><p><strong>Results: </strong>In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.</p><p><strong>Conclusions: </strong>FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial <i>ALB</i> hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"532-535"},"PeriodicalIF":1.3000,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in <i>ALB</i> gene in Turkish children.\",\"authors\":\"Doga Turkkahraman, Merve Gullu, Suat Tekin, Tarkan Kalkan\",\"doi\":\"10.1515/jpem-2023-0506\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To investigate albumin (<i>ALB</i>) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).</p><p><strong>Methods: </strong>Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.</p><p><strong>Results: </strong>In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.</p><p><strong>Conclusions: </strong>FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial <i>ALB</i> hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.</p>\",\"PeriodicalId\":50096,\"journal\":{\"name\":\"Journal of Pediatric Endocrinology & Metabolism\",\"volume\":\" \",\"pages\":\"532-535\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-05-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Endocrinology & Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1515/jpem-2023-0506\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/25 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Endocrinology & Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1515/jpem-2023-0506","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/25 0:00:00","PubModel":"Print","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.
Objectives: To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).
Methods: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.
Results: In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.
Conclusions: FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.
期刊介绍：
The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
