摘要
目的探讨希佩尔-林道(von Hipple-Lindau,VHL)综合征临床及影像表现,提高对该病的认识。方法回顾性分析经影像及病理证实为VHL综合征8例患者的临床和影像资料,并结合文献复习。结果 8例VHL综合征患者,5例有家族患病史,8例合并中枢神经系统血管母细胞瘤(其中3例多发),3例合并视网膜血管母细胞瘤,6例合并肾透明细胞癌和(或)肾囊肿,1例合并肾血管平滑肌脂肪瘤,4例合并胰腺多发囊肿,2例合并嗜铬细胞瘤,2例合并肝血管瘤和(或)囊肿(1例多发),1例合并肝、肺脓肿。8例VHL综合征患者中,4例诊断为VHL综合征-ⅠA型,2例诊断为VHL综合征-ⅠB型,2例诊断为VHL综合征-ⅡB型。结论 VHL综合征常表现为多个器官受累,合并视网膜或中枢神经系统血管母细胞瘤多呈"大囊肿伴壁结节"混合肿块;合并肾癌多表现为单或双肾多发肿块(伴双肾多发囊性病变)。
Objective To explore the clinical and imaging characteristics of von Hipple-Lindau（ VHL） syndrome,in order to improve the level of recognition and diagnosis of the disease. Methods The clinical and imaging data of 8 patients with VHL syndrome confirmed by imaging and pathology were retrospectively analyzed,which was combined with literature review. Results Eight VHL syndrome patients performed 64-layer spiral CT and 3. 0T magnetic resonance imaging scanning and enhanced scanning,and five patients had family history of illness. There were 8 cases with central nervous system vascular tumor（ frequent in 3 cases）,3 cases with retinal vascular tumor,6 cases with renal clear cell carcinoma and（ or） renal cyst,1 case with renal angiomyolipoma,4 cases with pancreas multiple cysts,2 cases with pheochromocytoma,2 cases with liver vascular tumor and（ or） cyst（ frequent in 1 case）,and 1 case with liver abscess and lung abscess. Among them,4 cases were diagnosed as VHL syndrome-IA type,2 cases diagnosed as VHL syndrome-IB type,and 2 cases diagnosed as VHL syndrome-IIB type. Conclusion VHL syndrome often shows multiple organ involvement and poor prognosis. Imaging examination is helpful to qualitative diagnosis,disease screening and long-term follow-up for the members of the family.
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2016年第8期885-888,共4页
Journal of Third Military Medical University
关键词
VHL综合征
肾细胞癌
血管母细胞瘤
von Hipple-Lindau syndrome
renal cell carcinoma
hemangioblastoma
diagnosis
