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First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant
Article de En | WPRIM | ID: wpr-72415
Bibliothèque responsable: WPRO
ABSTRACT
Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment.
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Texte intégral: 1 Indice: WPRIM Sujet Principal: Pedigree / Thyroxine / Dosage radioimmunologique / Séquence nucléotidique / Analyse de séquence d'ADN / Albumines / Hyperthyroxinémie dysalbuminémique familiale / Hétérozygote Type d'étude: Prognostic_studies Limites du sujet: Adult / Female / Humans langue: En Texte intégral: Annals of Laboratory Medicine Année: 2017 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Pedigree / Thyroxine / Dosage radioimmunologique / Séquence nucléotidique / Analyse de séquence d'ADN / Albumines / Hyperthyroxinémie dysalbuminémique familiale / Hétérozygote Type d'étude: Prognostic_studies Limites du sujet: Adult / Female / Humans langue: En Texte intégral: Annals of Laboratory Medicine Année: 2017 Type: Article