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Pendred综合征的研究现状 被引量：3

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摘要 笔者查阅历年来Pendred综合征(耳聋-甲状腺肿综合征,PDS)的相关文献,对该病的病因、发病机制、临床表现、辅助检查、诊断、鉴别诊断和治疗情况等作一综述。发病原因为PDS基因即7q31基因出现缺失或突变。该病的甲状腺肿不宜采用手术治疗,应口服甲状腺素片或优甲乐,只有出现明显甲状腺肿压迫症状,或对激素治疗反应不明显时方可考虑手术。
作者 张东伟 杨维良
机构地区 哈尔滨医科大学附属第二医院普通外科
出处 《中国普通外科杂志》 CAS CSCD 2008年第5期488-490,共3页 China Journal of General Surgery
关键词 Pendred综合征/诊断 Pendred综合征/治疗 综述文献
分类号 R653.2 [医药卫生—外科学]
  • 相关文献

参考文献29

  • 1冉兴无,李秀钧.Pendred综合征[J].国外医学（内分泌学分册）,2001,21(2):57-59. 被引量：5
  • 2Coyle B, Coffey R, Armour JA, et al. Pendred syndrome (goiter and sensofineural hearing loss )maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4[J]. Nat Genet, 1996, 12(4) :421 -423.
  • 3Sheffield VC, Kraiem Z, Beck JC, et al. Pendred syndrome maps to chromosome 7 q21-34 and is caused by an intrinsic defect in thyroid iodine organification [ J ] . Nat Genet, 1996,12(4) :424 -426.
  • 4Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [J]. Nat Genet, 1997, 17 (4) : 411 - 422.
  • 5Bidart JM, Lacroix L, Evain-Brion D, et al. Expression of Na +/lsymporter and Pendred syndrome genes in trophoblast cells [J]. J Clin Endocrinol Metab, 2000, 85 (11) :4367 -4372.
  • 6Coucke P, Van Camp G, Demirhan O, et al. The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7 - cM region on chromosome 7 q [J]. Genomies, 1997,40 ( 1 ) :48 - 54.
  • 7Gausden E, Armour JAL, Coyle B , et al. Thyroid peroxidase: evidence for disease gene exclusion in Pendred' s syndrome [ J ]. Clin Endoer, 1996,44(4) :441 -446.
  • 8Everett L A, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [ J]. Nat Genet, 1997, 17 (4) : 411 - 422.
  • 9Masmoudi S, Charfedine I, Hmani M, et al. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation [ J ]. Am J Med Genet, 2000,90(1) :38 -44.
  • 10Royaux IE, Suzuki K, Moil A, et al. Pendfin, the protein encoded by the Pendred syndrome gene ( PDS ) , is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells [ J ]. Endocrinology, 2000, 141 (2) :839 -845.

二级参考文献16

  • 1Johnsen T, Videbaek H, Olesen KP. CT - scanning of the cochlea in Pcndred's syndrome [J]. Clin Otolaryngol, 1989, 14(4): 389-392.
  • 2Friis J, Johnsen T, Fedlt - Rasmussen V, et al. Thyroid function in patients with Pendred' s syndrome[J]. J Endocrinol Invest, 1988, 11(1):97-102.
  • 3Johnsen T, Sorensen MS, Fedlt - Rasmussen V, et al. The vaviable intrafamilar expressivity in Pendred' s syndrome[ J]. Clin Otolaryngol,1989, 14(4) : 395 -399.
  • 4Winerals CG, Smith R. Pendred' s syndrome - consequences of thyroidectomy[J]. Postgrad Med J, 1981, .57(3) : 329 -330.
  • 5AI - Jaberi TM, Hussein AD, Heis HA. Management of goiter in Pendred'ssyndrome[J]. BrJSurg, 1994, 81(10): 1511 -1512.
  • 6Bogazzi F,Raggi F,Ultimieri F,et al.A novel mutation in the pendrin gene associated with Pendred′s syndrome[].Clinical Endocrinology.2000
  • 7Coyle B,Coffrey R,Armour J A L,et al.Pendred syndrome(goitre and sensorineural hearing loss)maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4[].Nature Genetics.1996
  • 8Royaux I E,Suzuki K,Mori A,et al.Pendrin, the protein encoded by the pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells[].The Journal of Endocrinology.2000
  • 9Everett L A,Glaser B,Beck J C,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS)[].Nature Genetics.1998
  • 10Sheffield V C,Kraiem Z,Beck J C,et al.Pendred syndrome maps to chromosome 7q21~34 and is caused by an intrinsic defect in thyroid iodine organification[].Nature Genetics.1996

共引文献5

同被引文献60

  • 1于霄.Williams Syndrome研究进展[J].世界最新医学信息文摘,2020(84):36-37. 被引量：3
  • 2张迪,路虹,徐鸥,吕哲,张颖,王文利.磁共振内耳水成像在大前庭水管综合征诊断中的应用[J].临床耳鼻咽喉科杂志,2006,20(1):9-10. 被引量：7
  • 3袁永一,戴朴,黄德亮,朱秀辉,朱庆文,康东洋,刘丽贤,滕国春.内蒙古赤峰市聋校聋儿SLC26A4基因分析[J].中国耳鼻咽喉头颈外科,2007,14(5):251-256. 被引量：20
  • 4Reardon W, Coffey R, Pembrey ME, e t al. Pits falls in practice: diagnosis and misdiagnosis in Pendred syndrome [J]. J AudiolMed, 1997, 6:1.
  • 5Sheffield VC, Kraiem Z, Beck JC, et al . Pendred syndrome mapsto chromosome 7q21 -- 34 and is caused by an intrinsic defect in thyroid iodine organification[J]. Nat Genet, 1996,12:424.
  • 6Coyle T, Coffey R, Armour JAL, et al . Pendred syndrome (goiterand sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4[J]. Nat Genet, 1996,12:421.
  • 7Everett L, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)[J]. NatGenet,1997,17:411.
  • 8Coucke P, Van Camp G, DemirhanO, et al . The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7 --eM region on chromosome 7q [J]. Genomics, 1997, 40:48.
  • 9Bizhanova A, Kopp P. Genetics and phenomics of Pendred syn- drome[J]. Molecular and Cellular Endocrinology, 2010,322 : 83.
  • 10Laeroix L, Mian C, Caillou B, et al. Na+/I- symporter and Pendred syndrome gene and protein expressions in human ex- trathyroidal tissues [J]. Euro J Endoerinol,2001,144 : 297.

引证文献3

二级引证文献6

中国普通外科杂志
2008年 第5期

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