Hull M T, Warfel K A, Muller J, Higgins J T
Cancer. 1979 Oct;44(4):1523-6. doi: 10.1002/1097-0142(197910)44:4<1523::aid-cncr2820440452>3.0.co;2-0.
Von Hippel-Lindau's Disease is an hereditary disorder characterized by the development of hemangioblastomas of the cerebellum and retina and a variety of cystic and neoplastic lesions of other organs such as renal cell carcinoma and pheochromocytoma. In a single generation of a family with Von Hippel-Lindau's disease, all four siblings developed lesions classically associated with the complex. Additionally, two of the four developed islet cell tumors of the pancreas, one in one patient and five in the other. While a familial incidence of islet cell tumors is known in multiple endocrine adenomatosis, type I and Zollinger-Ellison syndrome, such a familial occurrence has been heretofore unrecorded in the Von Hippel-Lindau complex.
冯·希佩尔-林道病是一种遗传性疾病,其特征为小脑和视网膜出现血管母细胞瘤,以及其他器官出现各种囊性和肿瘤性病变,如肾细胞癌和嗜铬细胞瘤。在一个患有冯·希佩尔-林道病的家族中,同一代的所有四个兄弟姐妹都出现了与该综合征典型相关的病变。此外,这四人中有两人患了胰腺胰岛细胞瘤,一人患了1个,另一人患了5个。虽然在I型多发性内分泌腺瘤病和佐林格-埃利森综合征中已知胰岛细胞瘤有家族发病率,但迄今为止,这种家族性发病在冯·希佩尔-林道综合征中尚未有记录。