Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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Update: 8. Juni 2020