Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease

Abstract Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are conditions related to renal failure that can rarely occur in association as a contiguous gene syndrome. Angiomyolipomas (AMLs) are renal tumors strongly related to TSC that may rupture and cause life-threatening bleedings. We present a patient with TSC, ADPKD, and renal AMLs with persistent hematuria requiring blood transfusion. The persistent hematuria was successfully treated through endovascular embolization, a minimally invasive nephron sparing technique.

摘要：结节性硬化症（Tuberous sclerosis complex, TSC）与常染色体显性遗传性多囊肾病（autosomal dominant polycystic kidney disease, ADPKD）均为与肾衰竭相关的疾病，二者极少以邻接基因综合征的形式联合出现。血管平滑肌脂肪瘤（Angiomyolipomas, AMLs）是与TSC密切相关的肾肿瘤，可发生破裂并引发危及生命的出血。本文报告1例同时罹患TSC、ADPKD及肾血管平滑肌脂肪瘤的患者，该患者出现持续性血尿并需接受输血治疗。通过血管内栓塞术这一微创肾单位保留技术，患者的持续性血尿得到成功救治。