Von Hippel-Lindau综合征基因及临床诊治进展  

Progress of gene and clinical diagnosis and treatment on von Hippel Lindau syndrome

作　　者：孙建军 李金娟 党莹 李长栋 武弋 周杰 荔志云 南亚强 韩志礼 SUN Jianjun;LI Jinjuan;DANG Ying;LI Changdong;WU Yi;ZHOU Jie;LI Zhiyun;NAN Yaqiang;HAN Zhili(Department of Neurosurgery,the 940th Hospital of Joint Logistic Support Force of PLA,Lanzhou 730050,China)

机构地区：[1]解放军联勤保障部队第940医院神经外科,甘肃兰州730050

出　　处：《西北国防医学杂志》2021年第5期401-407,共7页Medical Journal of National Defending Forces in Northwest China

基　　金：甘肃省科技重点研发项目(17YF1FA136)。

摘　　要：逢希伯-林道(Von Hippel-Lindau,VHL)综合征是一种常染色体显性遗传型疾病,累计多个脏器,包括脑及脊髓血管网址细胞瘤、多囊胰腺、肾肿瘤、视网膜母细胞瘤、血红蛋白增多症等,其发病机理复杂,临床治疗难度较大,我院曾收治数例此类患者,通过多学科共同协作最终患者治愈。现就VHL综合征的概念、发病机理、基因学表现、治疗等作一综述。Von Hippel-Lindau(VHL)syndrome is an autosomal dominant hereditary disease,which has accumulated multiple organs,including brain and spinal cord hemangioblastoma,polycystic pancreas,renal tumor,retinoblastoma,hemoglobinosis,etc.Its pathogenesis is complex,and the clinical treatment is difficult.The author has treated several cases of such patients,and finally cured them through multidisciplinary cooperation.This article reviews the concept,pathogenesis,genetic manifestations and treatment of VHL syndrome.

关 键 词：VHL综合征 血管网织细胞瘤 多囊胰腺 肾肿瘤 视网膜血管母细胞瘤 

分 类 号：R394[医药卫生—医学遗传学]