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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

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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：23
  • 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.
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  • 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.
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  • 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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