结节性硬化症合并肾血管平滑肌脂肪瘤22例临床分析

Clinical analysis of tuberous sclerosis complex complicated with renal angiomyolipoma： a report of 22 cases

目的探讨结节性硬化症合并肾血管平滑肌脂肪瘤的诊治策略。方法回顾性分析1983年2月至2012年11月在北京协和医院诊治的22例结节性硬化症合并肾血管平滑肌脂肪瘤患者的临床诊治资料。结果22例患者中男12例，女10例；年龄1-46岁，平均23岁。所有患者均为双肾多发血管平滑肌脂肪瘤，瘤体直径0．7～18．0cm，平均8．5cm。瘤体最大径与是否出现临床症状存在相关性。瘤径〈4cm者共8例予定期随诊观察。瘤径介于4—10cm者共8例，其中5例行保留肾单位的肾部分切除术，余3例门诊随访观察。瘤径〉10cm者共6例，3例行选择性介入动脉栓塞术；1例栓塞后应用雷帕霉素治疗；1例合并肾细胞癌，行肾部分切除；1例出现肾功能不全，因合并肺部淋巴管肌瘤病变致大咯血而死亡。栓塞及手术患者平均随访25个月，未出现严重出血及症状加重，其中雷帕霉素治疗1年后瘤体直径缩小10％。结论结节性硬化症多合并双肾多发血管平滑肌脂肪瘤，瘤体最大径〈4cm者可门诊随访观察，瘤径〉4cm或有临床症状者可给予相应药物、栓塞或手术治疗。

Objective To explore the diagnosis and treatment of tuberous sclerosis complex complicated with renal angiomyolipoma. Methods The clinical data of 22 patients with tuberous sclerosis complex complicated with renal angiomyolipoma were analyzed retrospectively. Results There were 12 males and 10 females with a mean age of 23 （ 1 - 46 ） years. All of them had bilateral multiple renal angiomyolipomas. The mean tumor size was 8.5 （0. 7 - 18.0） cm in diameter. The presence or absence of clinical symptoms showed a significant correlation with tumor size. Eight patients with angiomyolipoma under 4 cm in diameter were continuously monitored at an outpatient clinic. There were 8 patients with lesions of 4-10 cm. Five of them underwent nephron-sparing surgeries and another 3 monitored at an outpatient clinic. There were 6 patients with tumor over 10 era. Three of them underwent transeatheter arterial embolization and one case took rapamycin after embolization. One patient with concurrent renal cell carcinoma underwent partial nephrectomy. Chronic renal failure occurred in one case dying of pulmonary lymphangiomyomatosis with serious hemoptysis. During a mean follow-up of 25 months, neither severe renal hemorrhage nor symptomatic aggravation was found. In the case of rapamycin, there was 10% reduction in the size of angiomyolipoma. Conclusions Most cases of tuberous sclerosis complex are complicated with bilateral multiple renal angiomyolipoma. The small lesions under 4 cm in diameter may be monitored at an outpatient clinic. For those larger （ 〉 4 cm） or symptomatic ones, medication, embolization or surgery is necessary.