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von Hippel-Lindau氏病是有广泛表现的多系统病。属常染色体显性遗传。为母斑病(phakomatoses)之一。胰腺、肾、副睾、肝、肺、肾上腺、骨、网膜和结肠系膜的囊肿均有记述;也合并有肾癌、嗜铬细胞瘤和脑膜瘤。在个体和家族中的表现形式差异很大。部分病变如胰腺囊肿可以是良性的,而累及中枢神经系统、眼、和肾脏者则是破坏性的。眼底镜检查视网膜血管瘤的存在是筛选个体是否罹病的一个有效方法。
Von Hippel-Lindau’s disease is a multi-system disease with extensive manifestations. Is an autosomal dominant inheritance. One of the phakomatoses. The cysts of the pancreas, kidney, epididymis, liver, lungs, adrenal glands, bone, omentum, and mesentery are all described; kidney cancer, pheochromocytoma, and meningiomas are also involved. The manifestations in individuals and families vary widely. Some lesions such as pancreatic cysts can be benign, while those involving the central nervous system, eyes, and kidneys are destructive. The presence of retinal hemangiomas by ophthalmoscopy is an effective method for screening individuals for rickets.