Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis.
Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis.
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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
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发表时间：
1982
期刊：
影响因子：
--
通讯作者：
Ingbar,SH
中科院分区：
文献类型：
--
作者：
Ruiz,M;Rajatanavin,R;Young,RA;Taylor,C;Brown,R;Braverman,LE;Ingbar,SH
我们调查了来自8个家系的15名甲状腺功能正常的患者，他们最近发现了一种可能被误诊为甲状腺毒症的综合征--家族性高甲状腺素血症(FDH)。该综合征的特征是血清甲状腺激素和游离甲状腺激素指数(FT4I)升高，这是由于血清白蛋白异常优先与甲状腺激素结合所致。这种白蛋白有一个异常的结合部位，与甲状腺激素结合球蛋白上的激素结合部位相比，对甲状腺激素的亲和力(相对于它对三碘甲腺原氨酸的亲和力)要大得多。在这些患者中，促甲状腺激素释放激素和甲状腺抑制试验的结果以及平衡透析直接测量游离甲状腺激素浓度的结果都是正常的，尽管血清三碘甲腺原氨酸浓度可能略有升高。尽管外佣的流行程度尚不确定，但它可能比人们怀疑的更常见；在过去的一年里，我们看到了26例。(英国医学杂志)1982年；306：635-9。)
We investigated 15 euthyroid patients from eight families with a recently recognized syndrome, familial dysalbuminemic hyperthyroxinemia (FDH), that could be mistaken for thyrotoxicosis. The syndrome is characterized by elevations in serum thyroxine and the free-thyroxine index (FT4I), which are due to an abnormal serum albumin that preferentially binds thyroxine. This albumin has an abnormal binding site with a much greater affinity for thyroxine (relative to its affinity for triiodothyronine) than that of the hormone-binding site on thyroxine-binding globulin. Results of thyrotropin-releasing hormone and thyroid-suppression tests, as well as direct measurements of the free-thyroxine concentration by equilibrium dialysis, are normal in these patients, although the serum triiodothyronine concentration may be slightly elevated. Although its prevalence is uncertain, FDH may be more common than suspected; we have seen 26 cases within the past year. (N Engl J Med. 1982; 306:635–9.)