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VHL病的基因及临床研究进展 被引量：8

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摘要 VHL（VOIIHippel-Lindau）病是常染色体显性遗传性肿瘤病，其常见的肿瘤包括视网膜及中枢神经系统的血管母细胞瘤、肾透明细胞癌、嗜铬细胞瘤和胰腺肿瘤。除此之外，还有肾和胰腺囊肿、附睾或阔韧带囊腺瘤。VHL病发病率约为1／36000，1999年以后一般按照Glasker等提出的诊断标准：患者存在中枢神经系统血管母细胞瘤，以及：（1）视网膜血管瘤、肾细胞癌、嗜铬细胞瘤或附睾囊腺瘤；（2）任何级亲属表现VHL病的损害；
作者 张虎 史本涛 邓小林 崔林 关志忱
机构地区 安徽医科大学 北京大学深圳医院泌尿外科
出处 《中华临床医师杂志（电子版）》 CAS 2012年第13期148-150,共3页 Chinese Journal of Clinicians(Electronic Edition)
关键词 VHL病 中枢神经系统血管母细胞瘤 临床研究 常染色体显性遗传性 肾透明细胞癌 视网膜血管瘤 嗜铬细胞瘤 基因
分类号 R730.2 [医药卫生—肿瘤]
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参考文献18

  • 1Maher ER,Yates JR,Harries R. Clinical-features and natural history of von Hippel-Lindau Disease[J].Quarterly Journal of Medicine,1990.1151-1163.
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二级参考文献25

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共引文献2

同被引文献42

  • 1金讯波,王刚刚,王正,夏庆华.VHL综合征[J].泌尿外科杂志（电子版）,2014,6(1):48-53. 被引量：13
  • 2司捷旻,徐月敏.肾癌附睾转移一例报告[J].中华泌尿外科杂志,2006,27(11):791-791. 被引量：2
  • 3王忠诚.神经外科学[M].武汉：湖北科学技术出版社,1996.337-337.
  • 4何柏身,彭光明.VHL综合征的临床与影像学[J].实用放射学杂志,2007,23(7):986-988. 被引量：3
  • 5Sora S. Ueki K, Saito N. et al. Incidence of Von-Hippel-I.indau disease in hemangioblastoma patients: The University of Tokyo Hospital experience from 1994-1998[J]. Acta Neurochirurgica, 2001,143(9) :893-896.
  • 6Vortmeyer AO. Falke EA, Glsker S, et al. Nervous system in- volvement in yon Hippel-Lindau disease: pathology and mecha- nisms[J]. Acta Neuropathol,2013,125(3) :333-350.
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引证文献8

二级引证文献10

中华临床医师杂志（电子版）
2012年 第13期

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