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)。

IF 1.3 4区医学 Q4 ENDOCRINOLOGY & METABOLISM

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-05-14 Print Date: 2024-06-25 DOI:10.1515/jpem-2023-0506

Doga Turkkahraman, Merve Gullu, Suat Tekin, Tarkan Kalkan

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引用次数: 0

摘要

目的调查家族性白蛋白异常性高甲状腺素血症（FDH）疑似患者的 ALB 基因变异：研究纳入了 8 名土耳其患者。对受试者及其父母的临床和实验室特征进行了评估，并进行了基因分析：结果：在基因分析中，在 ALB 基因第七外显子中检测到了一个之前报道过的 c.725G>A 杂合子变异：结论：FDH 是一种无症状疾病，但仍存在误诊和不必要治疗的风险。因此，如果考虑到 FDH，建议采用快速、简单的 ALB 热点测序初步方法，而不是复杂、昂贵的实验室和成像技术。

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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.

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来源期刊

Journal of Pediatric Endocrinology & Metabolism 医学-内分泌学与代谢

CiteScore

2.70

自引率

7.10%

发文量

176

审稿时长

3-6 weeks

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.