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中华腔镜泌尿外科杂志(电子版) ›› 2025, Vol. 19 ›› Issue (02) : 272 -277. doi: 10.3877/cma.j.issn.1674-3253.2025.02.027

MDT 精选病例

广东省医学会泌尿外科疑难病例多学科会诊(第23期)——VHL综合征并双侧肾细胞癌
王奇1, 李林峰2, 林启盛1, 龚朝阳3, 连文清2, 龙永富2, 黄亚强2,()   
  1. 1. 524002 湛江,广东医科大学第一临床医学院
    2. 528404 中山,广东医科大学附属中山市人民医院泌尿外科
    3. 528404 中山,广东医科大学附属中山市人民医院器官移植科
  • 收稿日期:2025-02-06 出版日期:2025-04-01
  • 通信作者: 黄亚强

Multidisciplinary consultation on difficult cases in Guangdong Urological Association (Phase 23):VHL syndrome with bilateral renal cell carcinoma

Qi Wang1, Linfeng Li2, Qisheng Lin1, Chaoyang Gong3, Wenqing Lian2, Yongfu Long2, Yaqiang Huang2,()   

  1. 1. The First Clinical College of Medicine,Guangdong Medical University,Zhanjiang 524002,China
    2. Department of Urology,Zhongshan City People's Hospital Affiliated to Guangdong Medical University,Zhongshan 528404,China
    3. Department of Organ Transplantation,Zhongshan City People's Hospital Affiliated to Guangdong Medical University,Zhongshan 528404,China
  • Received:2025-02-06 Published:2025-04-01
  • Corresponding author: Yaqiang Huang
引用本文:

王奇, 李林峰, 林启盛, 龚朝阳, 连文清, 龙永富, 黄亚强. 广东省医学会泌尿外科疑难病例多学科会诊(第23期)——VHL综合征并双侧肾细胞癌[J/OL]. 中华腔镜泌尿外科杂志(电子版), 2025, 19(02): 272-277.

Qi Wang, Linfeng Li, Qisheng Lin, Chaoyang Gong, Wenqing Lian, Yongfu Long, Yaqiang Huang. Multidisciplinary consultation on difficult cases in Guangdong Urological Association (Phase 23):VHL syndrome with bilateral renal cell carcinoma[J/OL]. Chinese Journal of Endourology(Electronic Edition), 2025, 19(02): 272-277.

本文报道了一例范希佩尔-林道综合征(VHL 综合征)引发的双侧多发肾癌伴甲亢性心脏病的病例。患者因“胸闷、心悸持续3 个月,伴气促3 d”入中山市人民医院内分泌科,初步诊断为甲亢性心脏病。通过影像学检查,发现双肾多发肿物,入院后予药物治疗,症状缓解后出院,肾肿物未处理。患者随后在外院进行肾肿物穿刺活检及基因检测,明确诊断为VHL 综合征伴双侧肾透明细胞癌。由于患者Ⅲ级心功能不全不能耐受手术,予口服阿昔替尼治疗,但疗效欠佳。后患者再次入住我院,经多学科会诊后接受经导管心脏射频消融术治疗快速型房颤,心功能好转。复查CT 提示双肾局部进展期肾癌并右侧肾静脉癌栓。患者坚持保肾意愿,首先接受腹腔镜左侧半肾切除术,术后进行阿昔替尼联合特瑞普利单抗治疗3 周期,右侧肾癌影像学稳定。通过广东省医学会泌尿外科疑难病例多学科会诊,考虑到右侧肾癌保肾手术难度大且风险高,专家建议行右侧根治性肾切除手术,但患者坚持要求保留右肾。经充分沟通后,本院多学科团队为患者施行了“腹腔镜下右肾切除术+工作台右肾肿瘤切除+原位自体肾移植术”。术后复查双肾未见肿瘤残留,双肾功能得以较好保留,患者开始接受替雷利珠单抗辅助免疫治疗。工作台保肾手术为保肾意愿强烈的局部进展期肾癌患者提供了一个新的治疗选择,但后续治疗和随访仍面临挑战。

This article reports a case of bilateral multifocal renal carcinoma associated with hyperthyroid heart disease caused by Von Hippel-Lindau (VHL) syndrome.The patient was admitted with a history of "chest tightness and palpitations for 3 months,accompanied by shortness of breath for 3 days," and was initially diagnosed with hyperthyroid heart disease.Imaging studies revealed multiple renal masses,and after receiving medical treatment,his symptoms improved and he was discharged,the renal mass was untreated.Subsequently,the patient underwent renal mass biopsy and genetic testing at another hospital,which confirmed the diagnosis of VHL syndrome with bilateral clear cell renal carcinoma.Due to the patient's III-level heart failure,he was unable to tolerate surgery and was treated with oral axitinib,but the response was poor.Then the patient was readmitted to our hospital again,after multidisciplinary consultation,underwent catheter-based radiofrequency ablation for rapid atrial fibrillation,resulting in improvement of heart function.A follow-up CT scan revealed locally advanced renal cancer in both kidneys with a right renal vein thrombus.The patient insisted on preserving kidneys and first underwent laparoscopic left partial nephrectomy.After three cycles of axitinib combined with tiragolumab treatment,the right renal cancer was stable on imaging.Through the multidisciplinary consultation by Guangdong Urological Association,it was recommended that the patient undergo right radical nephrectomy due to the complexity and high risk of kidney-preserving surgery for the right kidney.However,the patient insisted on preserving the right kidney.After thorough communication,the multidisciplinary team performed "laparoscopic right nephrectomy + tabletop renal tumor resection + autologous kidney orthotopic transplantation." Postoperatively,follow-up showed no residual tumor in both kidneys,and renal function was well preserved.The patient began receiving atezolizumab-assisted immunotherapy.The tabletop kidney-preserving surgery provided a new treatment option for patients with locally advanced renal carcinoma who strongly wish to preserve kidney function,although future treatment and follow-up still pose challenges.

图1 VHL 综合征并双侧肾癌患者右肾上极肿瘤CT 影像 注:a 为 动脉期显示右肾肿瘤侵犯肾窦,紧贴肾动脉(箭头示);b 为静脉期显示右肾中上部肿瘤(箭头示);c 为右肾静脉癌栓(箭头示)
图2 VHL 综合征并双侧肾癌患者右肾工作台肾肿瘤切除术及自体肾原位移植术 注:a 为将癌栓推向远侧并离断右肾静脉上支;b 为切除右肾中上部肿瘤;c 为切除右肾下极肿瘤;d 为交锁缝合右肾中上部创面实质及集合系统,并结扎创面小血管;e 为右肾门血管重建;f 为原位移植肾,血管吻合情况及开放血管后肾下极肿瘤创面
图3 VHL 综合征并双侧肾癌患者右肾癌病理 图4 VHL 综合征并双侧肾癌患者右肾自体移植后CT 影像
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