[1]党萍萍,滕卫平,单忠艳,等.遗传性甲状腺素结合球蛋白异常的研究进展[J].国际内分泌代谢杂志,2023,43(03):221-224,256.[doi:10.3760/cma.j.cn121383-20220310-03025]
 Dang Pingping,Teng Weiping,Shan Zhongyan,et al.Progress in hereditary thyroxin-binding globulin abnormality research[J].International Journal of Endocrinology and Metabolism,2023,43(03):221-224,256.[doi:10.3760/cma.j.cn121383-20220310-03025]
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遗传性甲状腺素结合球蛋白异常的研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
43
期数:
2023年03期
页码:
221-224,256
栏目:
综述
出版日期:
2023-05-20

文章信息/Info

Title:
Progress in hereditary thyroxin-binding globulin abnormality research
作者:
党萍萍滕卫平单忠艳滕晓春
中国医科大学附属第一医院内分泌与代谢病科,内分泌研究所,国家卫生健康委员会甲状腺疾病诊治重点实验室(共建),沈阳 110000
Author(s):
Dang Pingping Teng Weiping Shan Zhongyan Teng Xiaochun.
Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, the First Affiliated Hospital of China Medical University, Shenyang 110000, China
关键词:
甲状腺激素 甲状腺素结合球蛋白 SERPINA7基因
Keywords:
Thyroid hormone Thyroxine-binding globulin SERPINA7
DOI:
10.3760/cma.j.cn121383-20220310-03025
摘要:
甲状腺激素主要包括甲状腺素(T4)和三碘甲腺原氨酸(T3),外周血中约有75%结合型T4和70%结合型T3与血清甲状腺素结合球蛋白(TBG)结合。遗传性TBG异常主要由SERPINA7基因突变所致。根据男性患者血清TBG水平,分为3种类型,即TBG完全缺乏、TBG部分缺乏和TBG过量。血清TBG水平的改变,主要影响血清总T4和总T3水平,而对血清游离甲状腺激素无影响,此类患者若能够明确遗传性TBG异常的诊断,则无需治疗。当遗传性TBG异常合并存在其他甲状腺疾病时,甲状腺功能相关指标的实验室检验结果将变得更加复杂,极易导致误诊、漏诊,甚至误治。因此增强对本病的认识可以避免误诊、误治,减少不必要的实验室检验,或不适当的治疗。
Abstract:
Thyroid hormones mainly include thyroxine(T4)and 3,5,3'-triiodothyronine(T3). About 75% of T4 and 70% of T3 in circulating blood bind to serum thyroxine binding globulin(TBG). Hereditary TBG abnormalities is caused by SERPINA7 mutation, which are classified into three types according to serum TBG levels in male patients: complete TBG deficiency(TBG-CD), partial TBG deficiency(TBG-PD), and TBG excess(TBG-E). The decrease of serum TBG level often leads to decreased level of total T4 and total T3, while the serum free thyroid hormone are normal. If the diagnosis of hereditary TBG abnormalities can be confirmed in such patients, no treatment is required. When hereditary TBG abnormalities are combined with other thyroid diseases, the thyroid function test will become more complicated, which will easily lead to misdiagnosis, missed diagnosis, and even mistreatment. Therefore, enhancing the understanding of this disease can avoid misdiagnosis, mistreatment, reduce unnecessary laboratory tests, or inappropriate treatment.

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备注/Memo

备注/Memo:
通信作者:滕晓春,Email:tengxiaochun126.com
基金项目:国家自然科学基金资助项目(81970681)
更新日期/Last Update: 2023-05-20