A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia
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چکیده
منابع مشابه
A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia
CONTEXT Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T4 affinity, causes artefactual elevation of free T4 concentrations in euthyroid individuals. OBJECTIVE Four unrelated index cases with discordant thyroid function tests in different assay platforms were investigated. DESIGN AND RESULTS Laboratory biochemical assessment, radiolabe...
متن کاملFluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia.
Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant syndrome in which clinically euthyroid patients have elevated total thyroxine levels. These high serum thyroxine levels are traceable to altered binding of thyroxine to the patient's albumin. Albumin from FDH patients and normal volunteers have been purified. Reverse-phase and ion-exchange high performance liquid chromatog...
متن کاملStructural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.
Human serum albumin (HSA) is the major protein component of blood plasma and serves as a transporter for thyroxine and other hydrophobic compounds such as fatty acids and bilirubin. We report here a structural characterization of HSA-thyroxine interactions. Using crystallographic analyses we have identified four binding sites for thyroxine on HSA distributed in subdomains IIA, IIIA, and IIIB. M...
متن کاملFamilial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P).
Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, sev...
متن کاملFamilial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.
1. Barassi A, Pallotti F, Melzi d’Eril GV. Biological variation of procalcitonin in healthy individuals. Clin Chem 2004;50:1878. 2. Assicot M, Gendrel D, Carsin H, Raymond J, Guilbaud J, Bohuon C. High serum procalcitonin concentrations in patients with sepsis and infection. Lancet 1993;341:515–8. 3. Stolz D, Christ-Crain M, Bingisser R, Leuppi J, Miedinger D, Müller C, et al. Antibiotic treatm...
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ژورنال
عنوان ژورنال: International Journal of Endocrinology
سال: 2019
ISSN: 1687-8337,1687-8345
DOI: 10.1155/2019/5947415