10例结节性硬化症伴双肾错构瘤的临床诊治体会  

Experience of diagnosis and treatment for ten cases of tuberous sclerosis complex with bilateral renal hamartoma

作　　者：张恒[1] 田园丰 吴海啸[1] 徐旻[1] 胡洋[1] 朱德胜[1] 

机构地区：[1]浙江省金华市中心医院泌尿外科,浙江金华321000 [2]武汉市第一人民医院泌尿外科

出　　处：《临床泌尿外科杂志》2016年第3期226-229,234,共5页Journal of Clinical Urology

摘　　要：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 the treatment of tuberous sclerosis complex（TSC）with bilateral renal hamartoma and to raise awareness and treatment level of the disease.Method：A retrospective study was done in ten cases of TSC with bilateral renal hamartoma that were collected from 2009 to 2014.Three cases were males and seven were females.The age ranged from 16 to 48and the average was 32.2years old.Four cases came to hospital because of tumor rupture and bleeding,three patients suffered from waist pain,and the rest three were noted through physical examination.All cases were taken examinations including kidney color ultrasound,abdominal enhanced CT and routine examinations.However,some of them experienced other imaging examinations like MR and CT.All cases were diagnosed tuberous sclerosis according to the diagnostic criteria of the 2012 international tuberous sclerosis meeting.Result：The diameter of hamartoma ranged from 6to 23 cm in 10 cases,and only four experienced hamartoma rupture and bleeding according to imaging.Seven of them underwent partial nephrectomy,one received nephrectomy,and the rest two patients underwent selective arterial embolization（SAE）.All patients were followed up for 6to 56 months.Seven patients undergoing partial nephrectomy had relapsed and residual tumor enlargement was found.Two recurrent patients received the treatment of hemostasis and anti-inflammatory,one recurrent patient received left nephrectomy because of recurrent bleeding and infection,and another one recurrent patient discharged after the condition was stable.Two patients undergoing SAE also had relapsed and tumor enlargement was found during the follow-up period.Four cases who received mTOR one year after operation and SAE were found obvious decreasing in the tumor volume.Conclusion：Tuberous sclerosis is a disease of autosomal dominant and its very uncommon in clinical.Its often associated with bilateral renal hamartoma.Rupture hemorrhage is very common with the tumor growing and it can lead to

关 键 词：肾脏肿瘤 结节性硬化症 双肾错构瘤 

分 类 号：R737.11[医药卫生—肿瘤]