家族性血管母细胞瘤病的临床特征与治疗  

Clinical features and treatment of a familial hemangioblastoma and its literature review

作　　者：方泽鲁[1] 曹国彬[1] 曾思铭[1] 郑前朗 柯炎斌[1] 李伟[1] Fang Zelu Cao Guobin Zeng Siming Zheng Qianlang Ke Yanbin Li Wei(Department of Neurosurgery, Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, China)

机构地区：[1]广州医科大学附属第二医院神经外科,广州510260

出　　处：《中华神经医学杂志》2017年第10期1060-1063,共4页Chinese Journal of Neuromedicine

基　　金：广东省科技计划项目（2010A30400011-01）;广东省中医药管理局课题（20142094）

摘　　要：目的探讨希佩尔-林道（VHL）病的临床特征及诊疗过程，以期提高临床医生对该病的认识。方法回顾性分析广州医科大学附属第二医院神经外科自2005年12月至2017年8月收治的3个家系中7例VHL病患者的临床资料，分析其临床、影像、病理学特征及治疗情况。结果7例患者共行10例次手术，均在神经导航下进行。4例患者予病灶全切除；1例患者首次切除主要病灶，于第7、9年残余病灶长大，均再次手术治疗；1例患者首次切除主要病灶，8个月后残余病灶长大，再次手术治疗；1例患者予较大病灶切除，3个月后行剩余病灶γ刀治疗。7例患者的10例次手术病理结果均为血管母细胞瘤。本组无手术死亡病例，患者出院时症状较入院时均明显好转，随访至今均无神经功能缺损症状，可正常工作生活。结论手术治疗是VHL病目前的首选治疗方法，放射治疗对于微小病灶有效。Objective To investigate the clinical features, diagnosis and treatment of von Hippel-Lindau （VHL） disease in order to improve the understanding of this disease. Methods The clinical features, imaging features, pathological data and treatments of 7 patients in 3 families admitted to our hospital from December 2005 to August 2017 were retrospectively analyzed. Results Ten oprations were performed under the guidance of neural navigation system for the 7 patients. There were 4 enjoying total resection at once; one achieved primary surgical resection of the primary lesions, and residual lesions grew up and the patient accepted surgical treatment at the 7^th and 9^th years; one patient achieved primary surgical resection of the primary lesion, the residual lesions grew up and surgical treatment was performed 8 months later; another one underwent surgical resection of the primary lesion, and the residual lesion was treated with gamma knife therapy 3 months after surgery. The pathological results of the 10 operations of the 7 patients were proved to be hemangioblastoma. No operative deaths were noted. The symptoms of these patients when they were discharged from the hospital were significantly better than those when they were on admission. The 10 patients were followed up so far, no symptoms of neurological impairment were noted, and they could work and live a normal life. Conclusions Surgical treatment is still the preferred method of VHL, and radiotherapy is effective for small lesions.

关 键 词：家族性血管母细胞瘤病 临床特征 手术治疗 

分 类 号：R739.41[医药卫生—肿瘤]