Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Dysalbuminämische Hyperthyroxinämie

Dysalbuminämische Hyperthyroxinämie ist eine autosomal dominante Erkrankung, die durch erhöhte Thyroxinspiegel im Plasma bei Euthyreose auffällt. Die Ursache liegt in genetischen Varianten des Albumin-Gens, die eine Veränderte Thyroxinbindung nach sich ziehen.

Gliederung

Störungen des Schilddrüsenhormonsystems
Dysalbuminämische Hyperthyroxinämie
ALB
Hyperthyreose
Hypothyreose
Neigung zu autoimmunbedingten Schilddrüsenerkrankungen
Schilddrüsenhormonresistenz
Schilddrüsenkarzinome

Referenzen:

1.

Barlow JW et al. (1986) Familial dysalbuminaemic hyperthyroxinaemia: studies of albumin binding and implications for hormone action.

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2.

Heufelder AE et al. () Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients.

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3.

Weiss RE et al. (1995) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

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4.

Rajatanavin R et al. (1982) Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia.

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5.

Barlow JW et al. (1982) Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin.

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6.

Rajatanavin R et al. (1984) Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia.

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7.

Lalloz MR et al. (1983) Hyperthyroxinaemia: abnormal binding of T4 by an inherited albumin variant.

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8.

Ruiz M et al. (1982) Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis.

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9.

Lalloz MR et al. (1985) A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia.

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10.

Yabu Y et al. (1985) Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia.

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11.

Sunthornthepvarakul T et al. (1994) An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

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12.

DeCosimo DR et al. (1987) Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics.

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13.

Yabu Y et al. (1987) A new type of albumin with predominantly increased binding affinity for 3,3',5-triiodothyronine in a patient with Graves' disease.

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14.

Premachandra BN et al. (1988) Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia.

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15.

Jensen IW et al. (1987) Familial dysalbuminemic hyperthyroxinemia.

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16.

Yeo PP et al. (1987) A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin.

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17.

Petitpas I et al. (2003) Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

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18.

Pohlenz J et al. (2001) Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.

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19.

Wada N et al. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.

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20.

Petersen CE et al. (1994) A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.

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Update: 14. August 2020
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