Hes F J, Feldberg M A
Department of Internal Medicine, University Hospital Utrecht, The Netherlands.
Eur Radiol. 1999;9(4):598-610. doi: 10.1007/s003300050717.
Von Hippel-Lindau disease (VHL) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangioblastomas in the central nervous system (CNS), renal cell carcinomas, pheochromocytomas, islet cell tumors of the pancreas, and endolymphatic sac tumors, as well as cysts in the kidney, pancreas, and epididymis. This review focuses on developments in imaging of renal, adrenal, and pancreatic masses in VHL. Radiology still has a central place in managing of VHL. Radiologists should therefore be aware of the importances of MRI, CT, and US compared with other radiodiagnostic tools for these three organs. Since a conservative approach to the treatment of VHL lesions is now becoming more widely accepted, ongoing follow-up by careful radiological screening with US, and especially with MRI, will play a central role in managing the disease. We also give an overview of recent advances in the molecular biology of VHL, because the combination of imaging with (presymptomatic) DNA analysis has made early detection and screening of lesions possible and led to a reduction in morbidity and mortality.
冯·希佩尔-林道病（VHL）是一种遗传性综合征，其特征为易患双侧和多中心视网膜血管瘤、中枢神经系统（CNS）的血管母细胞瘤、肾细胞癌、嗜铬细胞瘤、胰腺胰岛细胞瘤和内淋巴囊肿瘤，以及肾、胰腺和附睾囊肿。本综述重点关注VHL中肾脏、肾上腺和胰腺肿块的影像学进展。放射学在VHL的管理中仍占据核心地位。因此，放射科医生应了解与其他用于这三个器官的放射诊断工具相比，MRI、CT和超声的重要性。由于现在对VHL病变采取保守治疗方法越来越被广泛接受，通过超声尤其是MRI进行仔细的放射学筛查进行持续随访，将在该疾病的管理中发挥核心作用。我们还概述了VHL分子生物学的最新进展，因为影像学与（症状前）DNA分析相结合使得早期发现和筛查病变成为可能，并降低了发病率和死亡率。
