Von Hippel-Lindau综合征肾脏病变10例诊治分析

doi:10.19558/j.cnki.10-1020/r.2018.03.014

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摘要 目的: 探讨Von Hippel-Lindau综合征(VHL综合征)肾脏病变的临床、影像学、病理特点及处理方法,提高对VHL综合征肾脏病变的认识与处理水平。方法: 回顾性分析上海长征医院2014年1月~2017年12月诊治的10例VHL综合征患者肾脏病变的临床特点及治疗方式,复习文献并讨论VHL综合征肾脏病变的评估与处理。结果: 8例患多发肾透明细胞癌,6例患多发肾囊肿,8例有视网膜多发血管瘤和(或)中枢神经系统血管瘤,2例有中枢神经系统血管母细胞瘤家病史,据此均符合该疾病临床诊断标准。其中2例行腹腔镜根治性肾切除术,2例行肾部分切除术,1例因合并胰腺多发囊肿导致门脉高压而行“脾切除+肾肿瘤活检术”,1例患者因肿瘤较小而予密切随访。结论: VHL综合征肾脏病变表现为肾透明细胞癌与肾囊肿,可采取积极监测、手术治疗与靶向治疗,目前缺乏处理指南,可在多学科综合治疗协作组的模式下进行个体化治疗,根据患者全身情况,共同制定治疗计划。

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关键词 ： Von Hippel-Lindau综合征, 肾脏病变, 肾癌, 肾囊肿

Abstract：Objective: To investigate the clinical features, diagnosis and management of renal lesions in patients with von Hippel-Lindau (VHL) syndrome and improve the current understanding on renal lesions. Methods: The clinical data of ten VHL syndrome patients with renal lesions were analyzed retrospectively, including clinical features, laboratory findings, imaging, pathological features, operation method and follow-up. Results: Eight patients with multiple clear cell renal cell carcinoma, six patients had renal cystic lesions, eight patient had retinal multiple angioma or angioma in central neural system (CNS), and two had family history of hemangioblastoma in CNS. All the ten patients had stable disease status, and followed up by outpatient visits. Conclusions: VHL syndrome can manifest as renal cell carcinoma and renal cystic lesions. Treatment contain active surveillance, surgical intervention and medical treatment. Nowadays there is no guideline specifically focused on VHL disease renal lesions. The optimal individualized treatment should under Multidisciplinary team (MDT), according to the general condition of patient, in order to improve prognosis.

Key words： von Hippel-Lindau syndrome renal lesion renal cell carcinoma renal cyst

收稿日期: 2018-01-29

ZTFLH:

R737.11

基金资助:国家自然科学基金重点项目(281730073)

通讯作者: 王林辉,wanglinhui@smmu.edu.com

作者简介: ^△共同第一作者

引用本文:

董毅, 琚官群, 吴震杰, 刘涛, 陈杰, 何屹, 刘冰, 王林辉. Von Hippel-Lindau综合征肾脏病变10例诊治分析[J]. 微创泌尿外科杂志, 2018, 7(3): 196-200.
Dong Yi, Ju Guanqun, Wu Zhenjie, Liu Tao, Chen Jie, He Yi, Liu Bing, Wang Linhui. Diagnosis and treatment of renal lesions in 10 patients with Von Hippel-Lindau syndrome. JOURNAL OF MINIMALLY INVASIVE UROLOGY, 2018, 7(3): 196-200.

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http://journal20.magtechjournal.com/Jwk_zgmnwk/CN/abstract/abstract1377.shtml 或 http://journal20.magtechjournal.com/Jwk_zgmnwk/CN/Y2018/V7/I3/196

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