结节性硬化症相关肾血管平滑肌脂肪瘤临床特征分析

Clinical characteristics of renal angiomyolipoma associated with tuberous sclerosis

目的探讨结节性硬化症(TSC)相关肾血管平滑肌脂肪瘤的诊疗进展,以提高对该病的认识。方法回顾性分析我院收治的4例TSC合并肾血管平滑肌脂肪瘤患者的诊疗资料,并结合最新文献进行复习。结果4例患者中男1例,女3例;年龄21~54岁,平均37.5岁;单侧1例,双侧3例。4例均符合2012年国际TSC共识大会临床诊断标准且经影像学诊断为肾血管平滑肌脂肪瘤,肿瘤直径1.9~21.8cm,平均7.9cm。4例患者中随访观察1例,予依维莫司片口服治疗2例,行保留肾单位手术治疗1例,术后病理回报肾血管平滑肌脂肪瘤。所有病例随访3~48个月,其中随访观察的1例其病灶未见增大,药物治疗的2例其瘤体双侧均不同程度缩小,手术治疗的1例无复发及恶化,4例患者肾功能均良好。结论TSC相关肾血管平滑肌脂肪瘤不难诊断,应实施个体化规范治疗,在多学科协同管理的基础上实现专科治疗,还应重视长期随访。

Objective To explore the progress of diagnosis and treatment of tuberous sclerosis complex-associated renal angiomyolipoma(TSC-RAML),so as to improve the cognition.Methods A retrospective analysis of 4 clinical cases with TSC-RAML from January 2013 to June 2018 and adiscussion combining with the latest classical literatures were done.Results Among the 4 patients,1 was male and 3 were females whose age ranged from 21 to 54 years,with an average of 37.5 years.One case was unilateral and 3 cases were bilateral.All the 4 patients met the clinical diagnostic criteria of the 2012 International TSC Consensus Conference and were diagnosed as RAML by medical imaging.The tumor diameter was 1.9-21.8 cm,with an average of 7.9 cm.Among them,1 cases was followed up;2 cases were treated with everolimus tablets;1 cases underwent nephron-sparing surgery(NSS).Postoperative pathological returns indicated RAML.All cases were followed up for 3-48 months.Among them,1 cases of conservative observation showed no increase in lesions;the volume of bilateral tumors of 2 cases with drugs treatment were reduced to different extents;1 cases with surgical treatment had no recurrence or deterioration.Four patients had good renal function.Conclusions TSC-RAML is not difficult to be diagnosed.We should follow the individualized and standardized management of treatment and achieve specialist treatment based on multidisciplinary collaborative management,paying attention to long-term follow-up.