目的:总结结节性硬化症合并双肾错构瘤的诊断及治疗进展,提高对该病的认识和诊治水平。方法:对收集的2009年10月~2014年12月以来10例结节性硬化症合并双肾错构瘤患者的临床资料进行回顾性分析,其中男3例,女7例;年龄16~48岁,平均(32.2±10.8)岁。因肿瘤破裂出血就诊4例,腰部胀痛不适就诊3例,体检发现就诊3例。所有患者均行肾脏彩超、腹部增强CT及入院常规检查,其中部分患者行头颅MR,肺部CT等影像学检查,根据2012年国际结节性硬化症会议诊断标准均诊断为结节性硬化症。结果:10例患者错构瘤直径6~23cm,平均(10.4±4.8)cm,其中4例影像学检查提示错构瘤破裂出血。7例患者行肾部分切除术,有1例行肾脏切除术,2例行选择性肾动脉栓塞术(selective renal artery embolization,SAE)。随访6~56个月,7例行肾脏部分切除的患者随访过程中肿瘤有不同程度的复发及残余肿瘤增大,其中2例患者肿瘤复发破裂出血,经止血、抗炎、制动等治疗,1例反复出血感染行左肾切除术,另外1例病情稳定好转后出院。2例行SAE患者在随访过程中肿瘤也有不同程度的复发及肿瘤增大。有4例患者在经以上治疗后口服雷帕霉素治疗,随访1年后肿瘤明显缩小。结论:结节性硬化症是一种常染色体显性遗传病,在临床上较为罕见,常常合并双肾多发错构瘤,随着肿瘤的不断增大,易发生破裂出血,甚至危及生命,因此该病需早诊断,早治疗。对双肾错构瘤的治疗需要根据肿瘤的大小、分布、发展情况及症状进行决定,目前主要的方法还是以手术和SAE为主,尽可能的保护肾脏功能,手术和SAE结合mTOR抑制剂治疗能有效的缩小肿瘤和减少肿瘤复发。 OBJECTIVE: To summarize the diagnosis and treatment progress of tuberous sclerosis with renal renal hamartoma, and to improve the understanding and diagnosis and treatment of the disease. Methods: The clinical data of 10 patients with tuberous sclerosis complicated with renal hamartoma collected from October 2009 to December 2014 were analyzed retrospectively, including 3 males and 7 females, aged from 16 to 48 Year old, with an average of (32.2 ± 10.8) years old. Bleeding due to tumor treatment in 4 cases, 3 cases of pain and discomfort in the waist, physical examination found 3 cases. All patients underwent renal color Doppler ultrasound enhanced abdominal CT and admission routine examination, some patients underwent head MR, pulmonary CT and other imaging studies, according to the 2012 International Conference on Tuberous Sclerosis diagnostic criteria were diagnosed as tuberous sclerosis . Results: The diameter of hamartoma in 10 patients was 6 ~ 23 cm in diameter, with an average of (10.4 ± 4.8) cm. Four of them showed hemangiomas with ruptured hemorrhage. Seven patients underwent partial nephrectomy. One had nephrectomy and two had selective renal artery embolization (SAE). During follow-up of 6 to 56 months, 7 patients underwent partial resection of the kidney with different degrees of recurrence and residual tumor enlargement during the follow-up. Among them, 2 patients had recurrence and rupture of the tumor and were treated by hemostasis, anti-inflammation, One case of recurrent hemorrhage infection underwent left nephrectomy, the other one was stable and discharged after discharge. 2 patients with SAE during the follow-up of the tumor also have varying degrees of recurrence and tumor size. Four patients received rapamycin after the above treatment, and the tumor was significantly reduced after one year of follow-up. Conclusions: Tuberous sclerosis is an autosomal dominant genetic disease, which is rare in clinical practice. It is often associated with multiple nephrotic hamartoma in the kidneys. With the increasing of the tumor, it is easy to rupture and hemorrhage, which is even life-threatening The disease early diagnosis and early treatment. The treatment of renal hamartoma need to be based on tumor size, distribution, development and symptoms to decide, the main method is still mainly surgery and SAE, as far as possible to protect renal function, surgery and SAE combined with mTOR inhibitor therapy Can effectively reduce the tumor and reduce tumor recurrence.