Von Hippel-Lindau Disease
Von Hippel-Lindau Disease
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DOI：
10.1186/1897-4287-3-4-171
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发表时间：
2005-01-01
影响因子：
1.7
通讯作者：
Lips, Cornelis J. M.
中科院分区：
文献类型：
--
作者：
Hes, Frederik J.;Hoppener, Jo W. M.;Lips, Cornelis J. M.
Von-Hippel Lindau（VHL）基因中的种系突变使携带者易于在视网膜、小脑、脊柱、肾脏、肾上腺和胰腺中发生大量血管化肿瘤。大多数VHL患者死于小脑血管母细胞瘤或肾细胞癌的后果。VHL基因是一种肿瘤抑制基因，通过调节缺氧诱导因子1-α（HIF 1-α）的活性参与血管生成。VHL的临床诊断可以通过VHL基因的分子遗传学分析来证实，这在几乎所有的VHL家族中都是有用的。患有（疑似）VHL的患者需要接受遗传咨询和定期检查。
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-alpha (HIF1-alpha). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.