[1]张磊,文利,杨柳青,等.希佩尔-林道综合征的临床及影像表现[J].第三军医大学学报,2016,38(08):885-888.
 Zhang Lei,Wen Li,Yang Liuqing,et al.Clinical and imaging diagnosis of von Hipple-Lindau syndrome[J].J Third Mil Med Univ,2016,38(08):885-888.
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希佩尔-林道综合征的临床及影像表现(/HTML )
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《第三军医大学学报》[ISSN:1000-5404/CN:51-1095/R]

卷:
38卷
期数:
2016年第08期
页码:
885-888
栏目:
临床医学
出版日期:
2016-04-30

文章信息/Info

Title:
Clinical and imaging diagnosis of von Hipple-Lindau syndrome
作者:
张磊文利杨柳青王光宪张冬
第三军医大学新桥医院放射科
Author(s):
Zhang Lei Wen Li Yang Liuqing Wang Guangxian Zhang Dong

Department of Radiology, Xinqiao Hospital, Third Military Medical University, Chongqing, 400037, China

关键词:
VHL综合征肾细胞癌血管母细胞瘤
Keywords:
von Hipple-Lindau syndrome renal cell carcinoma hemangioblastoma diagnosis
分类号:
R445;R596.1;R730.4
文献标志码:
A
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)。

Abstract:

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.

参考文献/References:

[1]Siu W K, Ma R C, Lam C W, et al. Molecular basis of von Hippel-Lindau syndrome in Chinese patients [J]. Chin Med J (Engl), 2011, 124(2): 237-241.
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更新日期/Last Update: 2016-04-18