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

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.