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家族性异常白蛋白血症性高甲状腺素血症

Familial dysalbuminemic hyperthyroxinemia.

作者信息

Jensen I W, Faber J

出版信息

Acta Med Scand. 1987;221(5):469-73. doi: 10.1111/j.0954-6820.1987.tb01282.x.

Abstract

A family with familial dysalbuminemic hyperthyroxinemia is described. The syndrome is inherited as an autosomal dominant trait and is characterized by marked elevation of serum thyroxine, due to increased binding of thyroxine to albumin, whereas serum triiodothyronine is normal. Serum free thyroxine is normal when measured with ultrafiltration or equilibrium dialysis, but artefactually high when measured with an analogue assay. The importance of the condition, which is harmless, lies in the misinterpretation of values with subsequent erroneous treatment of thyrotoxicosis. By using an ultrasensitive TSH method it is possible to discriminate between euthyroid and hyperthyroid patients and thereby to avoid incorrect diagnosis in subjects with euthyroid hyperthyroxinemia.

摘要

本文描述了一个患有家族性异常白蛋白血症性甲状腺素过多症的家庭。该综合征以常染色体显性特征遗传,其特点是血清甲状腺素显著升高,这是由于甲状腺素与白蛋白的结合增加,而血清三碘甲状腺原氨酸正常。当用超滤或平衡透析法测量时,血清游离甲状腺素正常,但用类似物分析法测量时会出现人为升高。这种无害病症的重要性在于对数值的错误解读以及随后对甲状腺毒症的错误治疗。通过使用超灵敏促甲状腺激素方法,可以区分甲状腺功能正常和甲状腺功能亢进的患者,从而避免对甲状腺功能正常的甲状腺素过多血症患者进行错误诊断。

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