Von Hippel-Lindau病:三家系报告及文献综述

Von Hippel-Lindau disease:a report of 3 Chinese families and literature review

目的报告von Hippel-Lindau病3家系临床特征并综述该病与神经系统相关病变的临床和基础研究进展。方法对中国人von Hippel-Lindau病3家系进行流行病学调查并复习相关文献。结果3家系均符合常染色体显性遗传特征。结论Von Hippel-Lindau病是一种常染色体显性遗传性肿瘤综合征,可累及多个器官,随着医学影像学、基因检测和神经外科手术技术的发展,von Hippel-Lindau病与神经系统相关病变的诊断与治疗取得了很大进步。Von Hippel-Lindau病家庭联盟的建立可能会为von Hippel-Lindau病患者及其家庭的相互支持帮助提供有益的平台。

Objective To report the clinical characteristics of 3 Chinese families with yon Hippel-Lindau （VHL） disease and review the recent advances in both clinical and fundamental aspect of VHL disease and related nervous system disorders. Methods Summarized the epidemiological investigation results of 3 Chinese families with VHL disease and reviewed related literatures. Results The epidemiological investigation results of these 3 Chinese families were in accord with the hereditary features of autosomal dominant heredity. Conclusion VHL disease is an autosomal dominant hereditary tumor syndrome involving to multiple organs. As the medical imaging, genetic testing and neurosurgery technique progress, the diagnosis and treatment of VHL disease and related nervous system disorders advance greatly. The establishment of VHL Family Alliance may be useful to provide mutual aid for both the VHL disease patients and their families.