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甲状腺素结合球蛋白浓度的遗传性异常。对19个家系进行的研究,这些家系中甲状腺素结合球蛋白存在遗传性增加或减少的情况。

Hereditary abnormalities of thyroxine-binding globulin concentration. A study of 19 kindreds with inherited increase or decrease of thyroxine-binding globulin.

作者信息

Burr W A, Ramsden D B, Hoffenberg R

出版信息

Q J Med. 1980;49(195):295-313.

PMID:6162169
Abstract

Nineteen families with hereditary abnormalities of thyroxine-binding globulin (TBG) have been studied, comprising a total of 15 males with absent TBG, and 15 females heterozygotic for this condition, and 14 males with excess of TBG and 44 heterozygotic females. Hereditary TBG excess was associated with thyrotoxicosis in four instances, and with myxoedema in three. The typical biochemical features of TBG abnormality are described, with the clinical histories of patients in whom diagnostic and management problems occurred.

摘要

对19个患有甲状腺素结合球蛋白(TBG)遗传性异常的家族进行了研究,其中共有15名男性的TBG缺失,15名女性为此状况的杂合子,14名男性的TBG过量以及44名杂合子女性。遗传性TBG过量在4例中与甲状腺毒症相关,在3例中与黏液性水肿相关。描述了TBG异常的典型生化特征,以及出现诊断和管理问题的患者的临床病史。

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