双肾多发性血管平滑肌脂肪瘤合并结节性硬化症的诊治分析

Diagnosis and treatment of bilateral multiple renal angiomyolipomas associated with tuberous sclerosis complex

目的总结双肾多发性血管平滑肌脂肪瘤（RAML）合并结节性硬化症（TSC）的临床特点，提高其诊治水平。方法回顾性分析2003年1月至2010年10月10例双侧RAML合并TSC的患者资料，男4例，女6例；年龄18～45岁，平均28岁。肿瘤破裂出血急诊人院3例，腰痛不适就诊5例，血尿就诊1例，健康体检发现1例。面部有典型的红色丘疹状血管纤维瘤7例，面部有扁平斑1例；合并癫痫症6例；明显智力障碍4例；表现智力障碍、癫痫症、面部血管瘤的典型三联征者2例。肿瘤出血急诊行经导管选择性肾动脉栓塞术1例，行保留肾单位肿瘤剜除术8例9侧，保守观察2例。结果急诊行经导管选择性肾动脉栓塞术患者手术顺利，止血有效。8例9侧保留肾单位手术顺利，剜除肿瘤最大者直径8．0cm。剜除肿瘤2～6个，平均3．5个。手术时间50～120min，平均70min。肾动脉阻断平均时间26min。术中出血量100～800ml，平均150ml。1例术中输血400ml，未发生术后出血。术后病理诊断均为RAML。8例术后随访3～60个月，平均25个月，肿瘤未见复发。肾功能均正常。2例保守观察者分别随访2、3年，肿瘤无明显增大及出血。结论伴有TSC的双侧RAML应早期诊断，适时根据肿瘤大小、位置及发展情况予以治疗，保留肾单位手术及经导管选择性肾动脉栓塞是有效的治疗方法。

Objective To discuss the clinical features of bilateral multiple renal angiomyolipomas （RAML） with tuberous sclerosis complex （TSC）. Methods Clinical data of 10 cases of bilateral multiple RAML associated with TSC treated from Jan. 2003 to Dec. 2010 were retrospectively reviewed. There were 4 males and 6 females in the study group, aged from 18 to 45 years, with an average age of 34 years. Three cases were treated urgently due to RAML hemorrhage. Five cases were treated due to back pain. One case was treated for hematuria. One case was diagnosed during physical examination. Facial angiofibroma occurred in 7 cases and facial flat speckle in 1 case. Epilepsy was indentified in 6 cases. Four cases had hypophrenia and 2 cases presented with symptoms of the classic triad： epilepsy, facial angiofibroma and hypophrenia. One case underwent urgent selective transcatheter arterial embolization （SEA）. Eight cases （9 sides） underwent renal sparing operation. Conservative therapy was adopted in 2 cases. Results The SEA was done successfully and bleeding ceased. All surgeries were completed successfully. The diameter of the biggest tumor resected was 8.0 cm. The number of tumors resected was 2 - 6, with an average of 3.5. The mean operative time was 70 min （range 50 to 120 min）. The mean time of controlling the renal artery was 26 min. The mean intraoperative hemorrhage was 150 ml. One case required a blood transfusion. None of the cases re-hemorrhaged after operation. Pathology revealed RAML. There was no recurrence in 8 cases and follow-up ranged from 3 to 60 months, with an average of 25 months. A hemorrhage did occur on the oppositer side in 1 case 4 months after surgery. In 2 cases, a conservative therapy of regular monitoring and follow-up at 24 and 36 months was chosen. The serum creatinine of all the patients was in a normal range. Conclusions The bilateral multiple RAML associated with TSC must be diagnosed as soon as possible and treated depending on the size, location and developing circumstance of the tumor in a timely fashion. Renal sparing surgery and SEA are effective therapies.