摘要
目的探讨VOYIHippel—Lindau（VHL）病的临床和影像学特点，提高对本病的认识。方法VHL患者1例。患者男，50岁，因无痛性全程肉眼血尿伴视物模糊5个月入院。影像学及眼底镜检查诊断双肾多发性肿瘤，肾囊肿，胰腺囊肿，肝囊肿，右眼视网膜血管瘤。12年前有小脑血管母细胞瘤手术史，无家族史。结果行左侧保留肾单位肿瘤切除术（肿瘤5枚），肿瘤最大约3．5cm×3．5cm，病理报告肾多发性透明细胞癌。术后口服索尼替尼治疗。随访4个月，肾功能正常，右肾肿瘤缩小。结论VHL病是一种家族性常染色体显性遗传性肿瘤病，病变表现为中枢神经系统血管母细胞瘤、内脏肿瘤和内脏多发囊肿等。全面的影像学检查是诊断和随访的重要手段。
Objective To investigate the clinical and imaging features of yon Hippel-Lindau dis- ease to raise awareness of the disease. Methods The clinical and imaging data of a case of VHL patient were analyzed retrospectively and discussed with relative literature review. The patient was a 50- year-old man, who was admitted with the chief complaints of painless gross hematuria and blurred vision for 5 months. Imaging data and ophthalmoscopy examination showed bilateral multiple renal tumors, renal cysts, pancreatic cysts, hepatic cysts and retinal angioma in his right eye. He suffered a surgical operation for his cerebellar hemangioblastoma 12 years ago without family history. Results The patient underwent nephron--sparing surgery （NSS） in the left kidney. Five renal tumors were re moved, and the largest tumor was 3.5 cm × 3. 5 cm. Postoperative oral administration of Sorafenib agents was applied. Followed up for 4 months, the renal function was normal and the right kidney tumor reduced. Pathology confirmed the diagnosis of multiple renal clear cell carcinoma. Conclusions VHL disease is a familial autosomal dominant hereditary syndrome, with the performance of hemangioblastoma in central nervous system, visceral tumors and multiple visceral cysts. Comprehensive imaging examination plays a major role in both the diagnosis and the follow up of VHL disease.
出处
《中华泌尿外科杂志》
CAS
CSCD
北大核心
2011年第2期103-107,共5页
Chinese Journal of Urology
关键词
VHL病
影像学
小脑血管母细胞瘤
肾肿瘤
癌
von Hippel Lindau Disease
Imaging
Cerebellar hemangioblastoma
Kidney neoplasms
Carcinoma
