Von Hippel-Lindau病

被引:2
|
作者
吕建平
机构
[1] 中山医科大学孙逸仙纪念医院神经外科()
关键词
VHL病; 中枢神经系统血管母细胞瘤; 视网膜血管瘤; 肾细胞癌;
D O I
10.16636/j.cnki.jinn.2002.02.023
中图分类号
R596 [遗传性疾病];
学科分类号
摘要
VHL病是一种常染色体显性遗传性疾病,其基因缺陷位于染色体3p25.5,患者可出现中枢神经系统和视网膜血管母细胞瘤,肾脏,胰腺肿瘤,嗜铬细胞瘤等,预后欠佳。患者常死于肾细胞癌和中枢神经系统血管母细胞瘤。早期诊断可以改善预后,但困难较大,新的基因检测技术有助于早期确诊。目前治疗主要是手术切除相应肿瘤,随着基础研究的深入,新的药物如血管生长抑制剂等可能提供新的治疗途径。
引用
收藏
页码:164 / 167
页数:4
相关论文
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