Von Hippel-Lindau病1例报告并文献复习

Von Hippel-Lindau diseases(a case report)

目的:提高Von Hippel-Lindau病的认识及诊治水平。方法:分析1例Von Hippel-Lindau病患者的临床资料、家系调查及基因学研究,并结合文献进行讨论。结果:B超、CT检查发现双肾肿瘤,左侧行保留肾单位手术,右侧行肾癌根治性切除术,术后病理均提示透明细胞癌。随访20月,患者因全身衰竭死亡。结论:影像学检查、家系调查及基因检测可诊断此病,高危家族的基因检测筛选及早期手术是治愈本病的关键。

Objective ： To explore the methods of diagnosis and treatment for Von Hippel - Lindau disease. Methods： A patient with Von Hippel - Lindau disease was reported. Familial and genetic researches was presented and discussed with reviewing the literature. Results： The diagnosis of tumor of kidney was established by B - ultrasonoggra- phy, CT. Patient was treated by surgery. The pathologic test showed renal cell carcinoma. After twenty months follow up, patient died. Conclusion：The diagnosis depends on imaging studies, familial and genetic researches. Screening in families with genetic tests and earlier surgical therapy are very important for the treatment.