遗传性甲状腺激素结合蛋白异常性疾病

Inherited disorders of thyroid hormone binding proteins

血清中的甲状腺激素主要通过与甲状腺激素结合蛋白结合来转运和贮存，甲状腺激素结合蛋白主要包括：甲状腺素结合球蛋白（TBG）、甲状腺素运载蛋白（TTR）和人血清白蛋白（HSA）。编码这3类蛋白的基因突变可导致遗传性甲状腺激素结合蛋白异常性疾病，表现为正常甲状腺功能性高甲状腺激素血症或正常甲状腺功能性低甲状腺激素血症，临床上极易误诊为甲状腺功能亢进症或甲状腺功能减退症。对这3类转运蛋白的分子结构、基因位点、致病突变及其临床特点的阐述，可提高对这类疾病的认识。

Thyroid hormones （TH） are transported and stored by binding to serum transport pro- teins, including thyroxine-binding globulin （TBG）, transthyretin （TTR） and human serum albumin （HSA）. Genetic variations in TH transport proteins lead to inherited disorders of TH binding proteins and the affected individuals present with euthyroid hyper-or hypothyroxinemia, which may be misdiagnosed as hy- per- or hypothyroidism. Summarizing the molecular structure, gene loci, pathogenic mutations and clinical features of the three TH binding proteins can increase clinical awareness of these conditions.