Shuin Taro, Yamazaki Ichiro, Tamura Kenji, Kamada Masayuki, Ashida Shingo
Department of Urology, Kochi Medical School, 783-8505, Kohasu, Oko-cho, Nankoku, Japan.
Int J Clin Oncol. 2004 Aug;9(4):283-7. doi: 10.1007/s10147-004-0415-3.
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with various tumors and cysts in the central nervous system (CNS) and visceral organs. Inactivation of the VHL tumor-suppressor protein and subsequent loss of function in the VHL, and Elongin BC (VBC) complex result in dysfunction in the ubiquitination of hypoxia-inducible factor (HIF), which is an important step in the development of angiogenic tumors. The most frequent disorders in VHL disease are hemangioblastoma in the CNS and retina, pheochromocytoma in the adrenal gland, renal cell carcinoma, and pancreatic neuroendocrine tumor. Here, we review recent ideas on the pathogenesis and clinical diagnosis and treatment of VHL disease. Progress in molecular diagnosis and molecular targeting therapy is expected for improvement in the diagnosis and treatment of this disease. The family's support for patients with VHL disease is important, being mutually helpful to overcome various social and psychological problems in the patients.
冯·希佩尔-林道（VHL）病是一种常染色体显性疾病，与中枢神经系统（CNS）和内脏器官中的各种肿瘤和囊肿相关。VHL肿瘤抑制蛋白的失活以及随后VHL和延伸蛋白BC（VBC）复合物功能的丧失，导致缺氧诱导因子（HIF）泛素化功能障碍，这是血管生成性肿瘤发展的重要一步。VHL病最常见的病症是CNS和视网膜的血管母细胞瘤、肾上腺的嗜铬细胞瘤、肾细胞癌和胰腺神经内分泌肿瘤。在此，我们综述了关于VHL病发病机制、临床诊断和治疗的最新观点。预计分子诊断和分子靶向治疗方面的进展将改善该疾病的诊断和治疗。VHL病患者家庭的支持很重要，有助于患者共同克服各种社会和心理问题。
