Hes F J, van der Luijt R B, Lips C J
Department of Internal Medicine, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, The Netherlands.
Neth J Med. 2001 Nov;59(5):225-34. doi: 10.1016/s0300-2977(01)00165-6.
Von Hippel-Lindau (VHL) disease is an autosomal, dominant inherited tumour syndrome with an estimated prevalence of 2-3 per 100,000 persons. A germline mutation in the VHL gene predisposes carriers to tumours in multiple organs. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, and endolymphatic sac tumours, as well as cysts and cystadenoma in the kidney, pancreas, epididymis and broad ligament. Penetrance of VHL disease is high, most carriers of a VHL germline mutation develop one or more tumours by the age of 60 years. The most common symptoms include: loss of vision, raised intracranial pressure, neurological deficits, paroxysmal raised blood pressure and local pain. At present, metastases from renal cell carcinoma and neurological complications from cerebellar haemangioblastoma are the most common causes of death. However, it is anticipated that intensive radiological and clinical monitoring, and advanced operation techniques will reduce both morbidity and mortality in patients with VHL disease.
冯·希佩尔-林道（VHL）病是一种常染色体显性遗传性肿瘤综合征，估计每10万人中患病率为2至3人。VHL基因的种系突变使携带者易患多个器官的肿瘤。这些肿瘤可能包括视网膜和中枢神经系统（CNS）的成血管细胞瘤、肾细胞癌、嗜铬细胞瘤、胰腺胰岛细胞瘤、内淋巴囊瘤，以及肾脏、胰腺、附睾和阔韧带中的囊肿和囊腺瘤。VHL病的外显率很高，大多数VHL种系突变携带者在60岁时会发生一种或多种肿瘤。最常见的症状包括：视力丧失、颅内压升高、神经功能缺损、阵发性血压升高和局部疼痛。目前，肾细胞癌转移和小脑成血管细胞瘤的神经并发症是最常见的死亡原因。然而，预计强化的放射学和临床监测以及先进的手术技术将降低VHL病患者的发病率和死亡率。
