结节性硬化症相关肾血管平滑肌脂肪瘤破裂出血的诊治分析

Diagnosis and Treatment of Tuberous Sclerosis Related Renal Angiomyolipoma Rupture and Hemorrhage

目的探讨结节性硬化症(tuberous sclerosis complex,TSC)相关肾血管平滑肌脂肪瘤(renal angiomyolipoma,RAML)合并破裂出血的临床特点,总结诊治经验。方法回顾性分析本院近10年收治的10例TSC-RAML破裂出血并得到密切随访的患者的临床资料。其中男性2例,女性8例,年龄19~47岁,均为双侧肾脏病变,入院后均行肾脏彩超、腹部增强CT检查。其中部分患者行头颅CT/MR及肺部CT等影像学检查,均明确诊断为TSC。结果 3例患者采取卧床、止血、输血等保守治疗,其中1例出院再发出血并继续保守治疗有效,余2例在随访的8~10年中未再发出血。5例行单侧介入栓塞治疗,在出院后仍出现再发出血,其中2例反复行保守治疗后病情稳定(其中1例栓塞后出现肾积脓而定期穿刺引流,同时口服mTOR抑制剂控制肿瘤进展,随访3年余病情稳定且肾功能正常),2例行RAML切除术(1例随访8年无进展,1例术后再发大出血死亡),1例术后2个月因大出血抢救无效死亡。1例行肾部分切除的患者随访7年无再发出血,肾功能正常,未见肿瘤复发。1例单侧肾切除术后对侧肾无再发出血,因术前合并尿毒症而需长期行透析治疗,随访7年未见复发。结论对于TSC-RAML并发出血的患者,瘤体发生再次破裂出血、并发感染、失血性休克的风险高,其治疗主要以介入和手术为主,术中应尽量减少对肾脏功能的损害。病情稳定时口服m TOR抑制剂控制肿瘤进展是可行的选择。

Objective To investigate the clinical characteristics of of tuberous sclerosis complex （ TSC）related renal angiomyolipoma （ RAML）rupture and hemorrhage,and to summarize the experience of diagnosis and treatment for this disease. Method A retrospective analysis of clinical data was done in 10 cases of TSC -RAML,who were followed - up closely in the past decade. Two cases were males and 8 cases were females.They were all bilateral renal lesions and the age ranged from 19 to 47 years old. After admission,all cases underwent kidney color ultrasound and abdominal enhanced CT examination. However,some patients experiencedother imaging examinations like brain CT and MR. Finally,they were all diagnosed as TSC. Result Three patients were treated with conservative treatment such as lying in bed,hemostasis and blood transfusion （ One caseof recurrent bleeding after discharge continued to be treated conservatively. The remaining 2 cases had no recurrent bleeding during the follow - up of 8 - 10 years） . Five cases underwent unilateral interventional embolization,and occurred recurrent bleeding after discharge,including 2 cases that were stable after repeated conservative treatment （ One case was complicated by pyonephrosis and then achieved regular puncture and drainage,andtake mTOR inhibitor orally to control tumor progression. After 3 years of follow - up,the condition was stableand the renal function was normal） , 2 cases underwent the excision of angiomyolipoma （ One case were followedup for 8 years without progress,the other died of rebleeding） ,one case died due to massive hemorrhage in thesecond month after operation. One patients underwent partial nephrectomy without postoperative re - bleedingfollowed up for 7 years with normal renal function and no recurrence of the tumor. The other undergoing the unilateral nephrectomy had no renal re - bleeding,and because of uremia before operation,long - term dialysistreatment should be performed. And there was no recurrence after 7 years of follow - up. Conclusions For patients having TSC - RAML with hemorrhage,there is a high risk of recurrent rupture and bleeding,infection andhemorrhagic shock. In short,the treatment is mainly based on interventional and surgical treatment,and the renal function should be maximizedly protected during the operation. It is also a feasible choice to take mTOR inhibitors to inhibit tumor progression when the disease is stable.