[1]王坤玲 朱梅.遗传性甲状腺激素结合蛋白异常性疾病[J].国际内分泌代谢杂志,2018,38(04):242-246.[doi:10.3760/cma.j.issn.1673-4157.2018.04.006]
　Wang Kunling,Zhu Mei.Inherited disorders of thyroid hormone binding proteins[J].International Journal of Endocrinology and Metabolism,2018,38(04):242-246.[doi:10.3760/cma.j.issn.1673-4157.2018.04.006]
点击复制

遗传性甲状腺激素结合蛋白异常性疾病()
分享到：

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
38
期数:
2018年04期
页码:
242-246
栏目:
综述
出版日期:
2018-07-20

文章信息/Info

Title:
Inherited disorders of thyroid hormone binding proteins
作者:
王坤玲 朱梅
300052 天津医科大学总医院内分泌代谢科
Author(s):
Wang Kunling;  Zhu Mei
Department of Endocrinology and Metabolism, The General Hospital, Tianjin Medical University, Tianjin 300052, China
关键词:
甲状腺激素结合蛋白;  甲状腺素结合球蛋白;  甲状腺素运载蛋白;  甲状腺激素结合球蛋白缺乏症;  家族性异常白蛋白血症性高甲状腺素血症
Keywords:
Thyroid hormone transport proteins;  Thyroxine-binding globulin;  Transthyretin;  Thyroxine-binding globulin deficiency;  Familial dysalbuminemic hyperthyroxinemia
DOI:
10.3760/cma.j.issn.1673-4157.2018.04.006
摘要:
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。
Abstract:
Thyroid hormones(TH)are transported and stored by binding to serum transport proteins, 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 hyper- 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.

参考文献/References:


[1] Pappa T,Ferrara AM,Refetoff S.Inherited defects of thyroxine-binding proteins[J].Best Pract Res Clin Endocrinol Metab,2015,29(5):735-747.DOI:10.1016/j.beem.2015.09.002.
[2] Benvenga S,Alesci S,Trimarchi F.High-density lipoprotein-facilitated entry of thyroid hormones into cells:a mechanism different from the low-density lipoprotein-facilitated entry[J].Thyroid,2002,12(7):547-556.DOI:10.1089/105072502320288384.
[3] Lacka K,Maciejewski A.Rare thyroid non-neoplastic diseases[J].Thyroid Res,2015,8:5.DOI:10.1186/s13044-015-0017-3.
[4] Berger HR,Creech MK,Hannoush Z,et al.A novel mutation causing complete thyroid binding globulin deficiency(TBG-CD MIA)in a male with coexisting Graves disease [J]. AACE Clin Case Rep,2017,3(2):e134-e139.DOI:10.4158/EP 161421.CR.
[5] Ferrara AM,Cakir M,Henry PH,et al.Coexistence of THRB and TBG gene mutations in a Turkish family[J].J Clin Endocrinol Metab,2013,98(6):E1148-E1151.DOI:10.1210/jc.2013-1413.
[6] Heit C,Jackson BC,McAndrews M,et al.Update of the human and mouse SERPIN gene superfamily[J].Hum Genomics,2013,7:22.DOI:10.1186/1479-7364-7-22.
[7] Petruk AA,Labanda MS,Alvarez RM,et al.The allosteric modulation of thyroxine-binding globulin affinity is entropy driven[J].Biochim Biophys Acta,2013,1830(6):3570-3577.DOI:10.1016/j.bbagen.2013.02.023.
[8] Hayashi Y,Mori Y,Janssen OE,et al.Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation[J].Mol Endocrinol,1993,7(8):1049-1060.DOI:10.1210/mend.7.8.8232304.
[9] Ferrara AM,Pappa T,Fu J,et al.A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer[J].J Clin Endocrinol Metab,2015,100(1):E173-E181.DOI:10.1210/jc.2014-3490.
[10] Mandel S,Hanna C,Boston B,et al.Thyroxine-binding globulin deficiency detected by newborn screening[J].J Pediatr,1993,122(2):227-230.
[11] Mannavola D,Vannucchi G,Fugazzola L,et al.TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature[J].J Mol Med(Berl),2006,84(10):864-871.DOI: 10.1007/s00109-006-0078-9.
[12] Su CC,Wu YC,Chiu CY,et al.Two novel mutations in the gene encoding thyroxine-binding globulin(TBG)as a cause of complete TBG deficiency in Taiwan[J].Clin Endocrinol(Oxf),2003,58(4):409-414.DOI:10.1046/j.1365-2265.2003.01730.x.
[13] Pappa T,Moeller LC,Edidin DV,et al.A novel mutation in the TBG gene producing partial thyroxine-binding globulin deficiency(Glencoe)identified in 2 families[J].Eur Thyroid J,2017,6(3):138-142.DOI:10.1159/000455097.
[14] 方燕兰,王春林,梁黎.部分性甲状腺激素结合球蛋白缺乏症二例并文献复习 [J]. 中华儿科杂志, 2016,54(6):428-432. DOI: 10.3760/CMA.J.ISSN.0578-1310.2016.06.008.
[15] Kobayashi H,Sakurai A,Katai M,et al.Autosomally transmitted low concentration of thyroxine-binding globulin[J].Thyroid,1999,9(2):159-163.DOI:10.1089/thy.1999.9.159.
[16] Mori Y,Miura Y,Takeuchi H,et al.Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families[J].J Clin Endocrinol Metab,1995,80(12):3758-3762.DOI:10.1210/jcem.80.12.8530630.
[17] Richardson SJ,Wijayagunaratne RC,D'Souza DG,et al.Transport of thyroid hormones via the choroid plexus into the brain: the roles of transthyretin and thyroid hormone transmembrane transporters[J].Front Neurosci,2015,9:66.DOI:10.3389/fnins.2015.00066.
[18] Polimanti R,Di Girolamo M,Manfellotto D,et al.In silico analysis of TTR gene(coding and non-coding regions, and interactive network)and its implications in transthyretin-related amyloidosis[J].Amyloid,2014,21(3):154-162. DOI:10.3109/13506129.2014.900487.
[19] Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update [J]. J Neurol, 2018,265(4):976-983.DOI: 10.1007/s00415-017-8708-4.
[20] Moses AC,Lawlor J,Haddow J,et al.Familial euthyroid hyperthyroxinemia resulting from increased thyroxine binding to thyroxine-binding prealbumin[J].N Engl J Med,1982,306(16):966-969.DOI:10.1056/NEJM 198204223061605.
[21] Refetoff S,Marinov VS,Tunca H,et al.A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study[J].J Clin Endocrinol Metab,1996,81(9):3335-3340.DOI:10.1210/jcem.81.9.8784093.
[22] Alves IL,Divino CM,Schussler GC,et al.Thyroxine binding in a TTR Met 119 kindred[J].J Clin Endocrinol Metab,1993,77(2):484-488.DOI:10.1210/jcem.77.2.8102146.
[23] Kragh-Hansen U,Galliano M,Minchiotti L.Clinical, genetic, and protein structural aspects of familial dysalbuminemic hyperthyroxinemia and hypertriiodothyroninemia[J].Front Endocrinol(Lausanne),2017,8:297.DOI:10.3389/fendo.2017.00297.
[24] Nagano H,Nakagawa Y,Ishikawa N,et al.Seven familial dysalbuminemic hyperthyroxinemia cases in three unrelated Japanese families and high-performance liquid chromatography analysis of the thyroxine binding profile [J]. Endocr Pract,2017,23(11):1325-1332.DOI:10.4158/EP171964.OR.
[25] Greenberg SM,Ferrara AM,Nicholas ES,et al.A novel mutation in the Albumin gene(R218S)causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction[J].Thyroid,2014,24(6):945-950.DOI:10.1089/thy.2013.0540.
[26] Schoenmakers N,Moran C,Campi I,et al.A novel albumin gene mutation(R222I)in familial dysalbuminemic hyperthyroxinemia[J].J Clin Endocrinol Metab,2014,99(7):E1381-E1386.DOI:10.1210/jc.2013-4077.
[27] Sunthornthepvarakul T,Likitmaskul S,Ngowngarmratana S,et al,Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect[J].J Clin Endocrinol Metab,1998,83(5):1448-1454.DOI:10.1210/jcem.83.5.4815.
[28] Tang KT, Yang HJ,Choo KB,et al.A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia[J].Eur J Endocrinol,1999,141(4):374-378.DOI:10.1530/eje.0.1410374.
[29] Tiu SC,Choi KL,Shek CC,et al.A Chinese family with familial dysalbuminaemic hyperthyroxinaemia [J].Hong Kong Med J,2003,9(6):464-467.
[30] 戴为信.一个家族性异常白蛋白高甲状腺素血症的表型和基因型分析 [J]. 中华医学遗传学杂志,2005,1(22):40-43.DOI:10.3760/j.issn: 1003-9406.2005.01.010.

相似文献/References:

[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.[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(04):221.[doi:10.3760/cma.j.cn121383-20220310-03025]

备注/Memo

备注/Memo:

通信作者:朱梅,Email: meichuqin@163.com
更新日期/Last Update: 2018-04-30