Choyke P L, Glenn G M, Walther M M, Patronas N J, Linehan W M, Zbar B
Diagnostic Radiology Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1182.
Radiology. 1995 Mar;194(3):629-42. doi: 10.1148/radiology.194.3.7862955.
von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas, among other less common manifestations. Although this entity has been recognized for almost 70 years, recent developments in the genetics and imaging of VHL disease have greatly improved understanding of the disease and its natural history. This review describes the major events that led to the discovery of the gene for VHL and will familiarize the reader with recent developments in the magnetic resonance Imaging, computed tomographic, and ultrasound findings of this entity. Despite advances in the genetic understanding of this disease, imaging techniques will continue to play a major role in the diagnosis, management, and treatment of VHL.
冯·希佩尔-林道（VHL）病是一种常染色体显性疾病，可引发视网膜血管母细胞瘤、中枢神经系统血管母细胞瘤、内淋巴囊肿瘤、肾细胞癌、胰腺囊肿和肿瘤、嗜铬细胞瘤以及附睾囊腺瘤等，还有其他一些不太常见的表现。尽管该疾病已被认识近70年，但VHL病在遗传学和影像学方面的最新进展极大地增进了对该疾病及其自然病史的了解。本综述描述了导致VHL基因发现的主要事件，并将使读者熟悉该疾病在磁共振成像、计算机断层扫描和超声检查结果方面的最新进展。尽管对该疾病的遗传学认识取得了进展，但成像技术将继续在VHL的诊断、管理和治疗中发挥重要作用。
