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2012年欧洲甲状腺学会关于由促甲状腺素受体突变导致的家族性、持续性、散发性、非自身免疫性甲状腺功能亢进的诊治指南解读 被引量：7

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摘要 家族性非自身免疫性常染色体显性遗传性甲状腺功能亢进（familial non-autoimmune autosomal dominanthyperthyroidism, FNAH）和持续性、散发性、先天性非自身免疫性甲状腺功能亢进 （ persistent sporadiccongenital non-autoimmune hyperthyroidism, PSNAH）是少见的由促甲状腺素受体（TSHR）胚系突变导致的甲状腺功能亢进（甲亢），迄今尚无针对该类疾病的诊治指南。
作者 杨昱 刘超
机构地区 中国中医科学院江苏分院、南京中医药大学附属江苏省中西医结合医院内分泌代谢病院区
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2014年第5期365-367,共3页 Chinese Journal of Endocrinology and Metabolism
关键词 甲状腺功能亢进 促甲状腺素受体 自身免疫性 诊治指南 家族性 持续性 散发性 hyperthyroidism
分类号 R581.1 [医药卫生—内分泌]
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参考文献15

  • 1Paschke R, Niedziela M, Vaidya B, et al. 2012 European Thyroid Association Guidelines for the management of familial and persistant sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations[J]. Eur Thyroid J, 2012,1:142-147.
  • 2Nwosu BU, Gourgiotis L, Gershengorn MC, et al. A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism[J]. Thyroid, 2006,16:505-512.
  • 3Alberti L, Proverbio MC, Costagliola S, et al. A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism[J]. Eur J Endocrinol, 2001,145: 249-254.
  • 4Karges B, Krause G, Homoki J, et al. TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5[J]. J Endocrinol, 2005,186:377-385.
  • 5Fuhrer D, Warner J, Sequeira M, et al. Novel TSHR germline mutation (Met463Val) masquerading as Graves′ disease in a large Welsh kindred with hyperthyroidism[J]. Thyroid, 2000,10:1035-1041.
  • 6Vaidya B, Campbell V, Tripp JH, et al. Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation[J]. Clin Endocrinol (Oxf), 2004,60:711-718.
  • 7Duprez L, Parma J, Van Sande J, et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism[J]. Nat Genet, 1994,7:396-401.
  • 8Wsapa CT, Duprez L, Ludgate M, et al. A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis[J]. Thyroid, 1999,9:1005-1010.
  • 9Gozu HI, Lublinghoff J, Bircan R, et al. Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism[J]. Mol Cell Endocrinol, 2010,322:125-134.
  • 10Hebrant A, van Staveren WC, Maenhaut C, et al. Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations[J]. Eur J Endocrinol, 2011,164:1-9.

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中华内分泌代谢杂志
2014年 第5期

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