结节性硬化症相关肾错构瘤自发性破裂出血临床诊治分析

Clinical analysis of spontaneous rupture in tuberous sclerosis-related renal angiomyolipoma

目的：探讨结节性硬化症相关肾错构瘤（TSC-RAML）自发性破裂出血的临床特点及诊治经验。方法：回顾性分析2009年1月~2014年9月收治的14例TSC-RAML自发性破裂出血患者的临床资料：男4例,女10例,年龄15~40（29.43±7.4）岁。所有患者均行肾脏彩色多普勒超声、腹部增强CT、血常规、尿常规及肝肾功能检查,部分患者行其他部位影像学检查,均符合2012国际TSC共识大会指南诊断标准。10例患者行输血、输液等保守治疗,3例行选择性肾动脉栓塞,1例行肾部分切除。结果：11例患者获得随访,7例病情基本稳定,偶有腰部疼痛等不适;2例患者分别服用雷帕霉素治疗近1年,病情稳定;2例患者因反复病灶出血,分别行选择性肾动脉栓塞术及肾部分切除术。结论：TSC-RAML多见于青年女性,双侧、多发,发病年龄小,进展速度快,出血风险高,而肾功能多在正常水平。对于TSC-RAML自发性破裂出血的治疗,原则上应该尽可能保留肾功能,对生命体征稳定者宜选择保守治疗,否则宜在支持治疗的同时行选择性肾动脉栓塞;手术为最后选择。

Objective：To investigate the clinical characteristics of spontaneous rupture in tuberous sclerosis-associated renal angiomyolipoma（TSC-RAML）,and summarize the experiences of diagnosis and treatment.Method：We retrospectively analyzed the clinical data of 14 patients with TSC-RAML treated in Peking Union Medical College Hospital from January 2009 to September 2014,including four males and ten females.Ages at treatment of TSC-RAML were from 15 to 40years（mean,29.43±7.4years）.The diagnosis was made depending on the recommendations of the 2012 international TSC consensus conference.All the patients underwent abdominal ultrasound examination,abdominal and pelvic CT scan,and other tests,including blood routine test,urine routine test,liver and renal function tests.Ten cases were treated with blood transfusion,infusion and other conservative treatments,and three patients were treated with selective renal artery embolization.The rest one patient was treated with nephron-sparing surgery.Result：Eleven patients were followed up.Seven of them recovered well except for occasional backache.Two of them received one-year therapy with rapamycin and their conditions were stabilized.Selective renal artery embolization was performed for one patient and partial nephrectomy was performed for another patient because of their repeated focus hemorrhage.Conclusion：TSC-RAML is often bilateral and multiple,and prone to young women with the features of little age of onset,high speed of development and high risk of bleeding.The renal function is always normal.For the management of TSC-RAML with spontaneous rupture,renal function should be preserved as much as possible in principle.For patients with stable vital signs,it was advised to choose conservative treatments.Otherwise,selective renal arterial embolization should be considered simultaneously.However,surgery is the last option.