手术切除结节性硬化症相关肾巨大血管平滑肌脂肪瘤一例  

A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma

作　　者：王站 肖雨[2] 王文达[1] 张玉石[1] WANG Zhan;XIAO Yu;WANG Wenda;ZHANG Yushi(Department of Urology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pathology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院泌尿外科,北京100730 [2]中国医学科学院北京协和医院病理科,北京100730

出　　处：《罕见病研究》2024年第1期118-123,共6页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-B-010,2022-PUMCH-A-151)。

摘　　要：结节性硬化症(TSC)是一种累及全身多器官、多系统的常染色体显性遗传病。TSC相关肾脏病变是成年TSC患者死亡的首要原因。本文回顾性分析1例手术治疗TSC相关肾巨大血管平滑肌脂肪瘤(RAML)的病例特点。该患者为25岁男性,2000年因双颊部多发斑丘疹而诊断为TSC。2019年7月患者复诊时,影像学检查发现左下腹肿瘤,最大横截面积16 cm×7 cm。基因检测提示TSC2的EX18_41存在杂合性缺失。明确诊断后,择期于北京协和医院行开腹左肾部分切除术,术中见左肾表面多发肿瘤,较大者位于左肾中极腹侧面,直径约20 cm。阻断肾动脉后,完整剜除左肾肿瘤。术后病理回报为血管平滑肌脂肪瘤。本病例为TSC相关肾巨大血管平滑肌脂肪瘤的治疗提供参考。Tuberous sclerosis complex(TSC)is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body.TSC-associated kidney disease is the leading cause of death in adult TSC patients.This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomy-olipoma(RAML)treated with surgery.The patient,25 years old,was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks.At a regular follow-up in July 2019,imaging exam-inations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm.Genetic testing showed a loss of heterozygosity in the EX18_41 of TSC2.After the diagnosis was confirmed,open left par-tial nephrectomy was performed,during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm.After the renal artery was occluded,kidney tumors were completely enucleate.Postoperative pathological confirmed the diagnosis of angiomyolipoma.This case provides a reference for the treatment of TSC-related renal giant hamartoma.

关 键 词：结节性硬化症 肾血管平滑肌脂肪瘤 肾部分切除术 罕见病 

分 类 号：R692[医药卫生—泌尿科学]