Familial dysalbuminaemic hyperthyroxinaemia.

Familial dysalbuminaemic hyperthyroxinaemia.
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家族性白蛋白异常性高甲状腺素血症。

DOI:
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发表时间:
1987
影响因子:
5.1
通讯作者:
C. Beardwell
C. Beardwell
中科院分区:
医学4区
文献类型:
--
作者:
S. J. Fleming;G. Applegate;C. Beardwell

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如果临床症状和实验室检查被误解,家族性盐蛋白缺乏性甲状腺功能亢进症(FDH)可能与甲状腺功能亢进症混淆。我们描述了一个家庭的三名外佣,他们因甲状腺功能亢进而被错误地治疗。对其他家庭成员的筛查结果发现,又有6名患者有被误诊为甲状腺功能亢进症的风险。文中还讨论了与诊断有关的临床和生化表现。
Familial dysalbuminaemic hyperthyroxinaemia (FDH) can be confused with thyrotoxicosis if clinical signs and laboratory tests are misinterpreted. We describe three members of the same family with FDH who were erroneously treated for thyrotoxicosis. Screening of other family members resulted in the discovery of a further six patients at risk of being misdiagnosed as thyrotoxic. Clinical and biochemical findings relevant to the diagnosis of FDH are discussed.
家族性白蛋白异常性高甲状腺素血症:一种可能与甲状腺毒症相混淆的综合征。
DOI: 10.1056/nejm198203183061103
发表时间: 1982
期刊: The New England journal of medicine
影响因子: --
作者:
Ruiz,M;Rajatanavin,R;Young,RA;Taylor,C;Brown,R;Braverman,LE;Ingbar,SH
通讯作者: Ingbar,SH