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TRβ基因M442T点突变所致甲状腺激素抵抗综合征1例报告 被引量：2

Report of the first case of thyroid resistance sydrome in China caused by M442T mutation of TRβ
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摘要 甲状腺激素抵抗综合征（RTH）是由于甲状腺激素受体（TR）基因突变，导致靶器官对甲状腺激素（TH）的敏感性降低，使得TH对全身组织器官作用障碍的一种罕见综合征。根据突变受体亚型不同，分为TRα基因突变致RTH（RTHd）和TRB基因突变致RTH（RTHB）。
作者 滕晓春 金婷 王冉冉 张涵袆 何雪 单忠艳 滕卫平
机构地区 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辽宁省内分泌疾病重点实验室
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2016年第1期84-86,共3页 Chinese Journal of Practical Internal Medicine
基金 国家自然科学基金资助项目(30800918) 国家临床重点专科项目
关键词 甲状腺激素抵抗 甲状腺激素受体β 基因突变 thyroid hormone resistance thyroid hormone receptor mutation
分类号 R581 [医药卫生—内分泌]
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参考文献7

  • 1RefetoffS, Bassett J H, Beck-Peccoz P, et al. Classification and proposed nomenclature for ir, herited defects of thyroid hormone action, cell transport, and metabolism[J]. J C1/n Endocrinol Metab, 2014, 99(3): 768-770.
  • 2Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone[J]. Biochim Biophys Acta, 2013, 1830(7): 3987- 4003.
  • 3Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination[J]. Best Pract Res Clin Endocrinol Metab, 2007, 21(2): 277-305.
  • 4Beck-Peccoz P, Persani L, Mannavola D, et al. Pituitary tumours: TSH- secreting adenomas[J]. Best Pract Res Clin Endocrinol Metab, 2009, 23(5): 597-606.
  • 5姜晓华,方微园,叶蕾,蔡洁,王曙,赵咏桔,王卫庆,宁光.甲状腺激素抵抗综合征的临诊应对[J].中华内分泌代谢杂志,2013,29(2):165-169. 被引量：13
  • 6Suzuki S, Shigematsu Sj Inaba H, et al. Pituitary resistance to thyroid hormones: pathophysiology and therapeutic options[J]. Endocrine,2011, 40(3): 366-371.
  • 7Bayer Y, Fasshauer M, Paschke R. The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report[J]. Exp Clin Endocrinol Diabetes, 2004, 112(2): 95-97.

二级参考文献26

  • 1Refetoff S, DeWind LT, DeGroot Ij. Familial syndrome combining deaf-tourism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab, 1967,27:279-294.
  • 2Pohlenz J, Weiss RE, Macchia PE, et al. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endncrinol Metab, 1999,84:3919- 3928.
  • 3Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev, 1993,14:348-399.
  • 4Reinhardt W, Jockenhovel F, Deuble J, et al. Thyroid hormone resistance : variable clinical manifestations in five patients. Nuklearmedizin, 1997,36:250-255.
  • 5Yen PM, Sugawara A, RefetoffS, et al. New insights on the mechanism (s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. J Clin Invest, 1992,90: 1825-1831.
  • 6Bemal J, Refetoff S, DeGroot LJ. Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab, 1978,47 : 1266-1272.
  • 7Kopp P, Kitajima K, Jameson JL. Syndrome of resistance to thyroid hormone : insights into thyroid hormone action. Proc Soc Exp Biol Med, 1996,211:49-61.
  • 8Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone- primum non nocere. J Clin Endocrinol Metab, 1999,84:401-404.
  • 9Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National institutes of Health Prospective Study. Ann intern Med, 1995,123: 572-583.
  • 10Madias NE, Johns CA, Homer SM. Independence of the acute acid- buffering response from endogenous parathyroid hmrnone. Am J Physiol, 1982,243 : F141 -F149.

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中国实用内科杂志
2016年 第1期

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