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遗传性出血性毛细血管扩张症临床特点及基因研究 被引量：3

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摘要 遗传性出血性毛细血管扩张症（hereditaryhaemorrhagictelangiectasia，HHT）最常见的症状是反复发生的鼻出血，且鼻出血常常难以控制和治疗，更难根治，严重者可导致贫血和休克，甚至危及生命。HHT是常染色体显性遗传病，目前已经克隆出2个基因，分别位于9号和12号染色体；新近又定位了2个基因，分别位于5号和7号染色体，能否从基因方面治疗该病成为许多学者研究的目标。本文对HHT临床特点及其基因研究进展做一综述。
作者 贾婧杰 张静 王洪田
机构地区 解放军总医院耳鼻咽喉头颈外科
出处 《国际耳鼻咽喉头颈外科杂志》 2012年第2期102-106,共5页 International Journal of Otolaryngology-Head and Neck Surgery
基金 基金项目：全军十一五科技攻关课题资助项目（08G118）
关键词 毛细血管扩张 遗传性出血性(Telangiectasia HEREDITARY Haemorrhagic) 基因(Gene)
分类号 R543.7 [医药卫生—心血管疾病]
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参考文献30

  • 1Bideau A, Brunet G, Heyer E, et al. An abnormal concentration of cases of Rendu-Osler disease in the Valserine valley of the French Jura: a geneological and demographic study. Ann Hum Biol, 1992, 19 (3) : 233-247.
  • 2McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial ceils, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet, 1994, 8 (4) : 345-351.
  • 3Johnson DW, Berg JN, Gallione CJ, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. GenomeRes, 1995, 5 (1) : 21-28.
  • 4Cole SG, Begbie ME, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J MedGenet, 2005, 42 (7) : 577-582.
  • 5Bayrak-Toydemir P, McDonald J; Akarsu N, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet, 2006, 140 (20) : 2155-2162.
  • 6Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) . Lancet, 2004, 363 (9412) : 852-859.
  • 7Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet, 1992, 29 (8) : 527-530.
  • 8Aassar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary haemorrhagic telangiectasia. Larynogoscope, 1991, 101 (9) : 977-980.
  • 9Haitjema T, Overtoom TT, Westermann CJ, et al. Embolization of pulmonary arteriovenous malformations: results and follow up in 32 patients. Thorax, 1995, 50 (7) : 719-723.
  • 10Haitjema T, Westermann CJ, Overtoom TT, et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) : new insights in pathogenesis, complications, and treatment. Arch lntemMed, 1996, 156 (7) : 714-719.

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同被引文献63

  • 1谢桂岚,李志祥,李哲先.遗传性出血性毛细血管扩张症的研究进展[J].中国现代医学杂志,2005,15(14):2153-2157. 被引量：24
  • 2TREMBATH R C,THOMSON J R,MACHADO RD,et al.Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia[J].N Engl J Med,2001,345:325-334.
  • 3HOAG J B,TERRY P,MITCHELL S,et al.An epistaxis severity score for hereditary hemorrhagic telangiectasia[J].Laryngoscope,2010,120:838-843.
  • 4LESCA G,PLAUCHU H,COULET F,et al.Molecular screening of ALK1/ACVRL1and ENG genes in hereditary hemorrhagic telangiectasia in France[J].Hum Mutat,2004,23:289-299.
  • 5GARG N,KHUNGER M,GUPTA A,et al.Optimal management of hereditary hemorrhagic telangiectasia[J].J Blood Med,2014,5:191-206.
  • 6SHOVLIN C L,GUTTMACHER A E,BUSCARINIE,et al.Diagnostic criteria for hereditary hemorrhagic telangiectasia(Rendu-Osler-Weber syndrome)[J].Am J Med Genet,2000,91:66-67.
  • 7PORTEOUS M E,BURN J,PROCTOR S J.Hereditary haemorrhagic telangiectasia:a clinical analysis[J].Am J Med Genet,1992,29:527-530.
  • 8MCDONALD J,WOODERCHAK-DONAHUE W,VANSANT WEBB C,et al.Hereditary hemorrhagic telangiectasia:genetics and molecular diagnostics in a new era[J].Front Genet,2015,6:1-8.
  • 9PIERUCCI P,LENATO GM,SUPPRESSA P,et al.Along diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia:aquestionnaire-based retrospective study[J].Orphanet J Rare Dis,2012,7:33.
  • 10Garg N, Khunger M, Gupta A, et al. Optimal management of hereditary hemorrhagic telangiectasia[ J]. J Blood Med, 2014, 5: 191-206. DOI : 10. 3389/fgene. 2015. 00001.

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国际耳鼻咽喉头颈外科杂志
2012年 第2期

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