Renal Angiomyolipoma in a Young Woman With Tuberous Sclerosis: A Case Report

一例患有结节性硬化症的年轻女性并发肾血管平滑肌脂肪瘤的病例报告

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Abstract

Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by mutations in tumor suppressor genes (TSC1/2), leading to hamartomas in multiple organs. Renal angiomyolipomas are often asymptomatic but can cause mass effects or bleeding if they enlarge, requiring treatment. A 29-year-old woman presented with severe left flank pain, an abdominal mass, and facial papules. Imaging revealed a large, 18.3 × 13 × 11.5 cm mass in the lower pole of the left kidney, which was fat-poor, a smaller lesion on the opposite kidney, pulmonary cysts, and osteoblastic bone lesions, all indicating tuberous sclerosis-associated lymphangioleiomyomatosis. A left nephrectomy was performed, and she recovered well. Histology confirmed a renal angiomyolipoma with chronic inflammation. This case underscores the importance of nephrectomy for managing large angiomyolipomas to alleviate symptoms and improve quality of life. Managing such patients requires a multidisciplinary approach, including imaging and genetic testing, with ongoing care and surveillance to achieve better outcomes.

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