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Renal manifestations of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder involving the skin, brain, kidney, heart and other organs. Renal manifestations are mainly angiomyolipomas, renal cysts and cancer. We report three female patients, mean aged of 31 years (range: 22-37), with a family history of TSC in one case. Cutaneous and nervous symptoms were found in all patients. Clinical complaints were mainly abdominal pain (3 cases), hematuria (2 cases), right flank palpable mass (1 case). Angiomyolipomas (AML) were diagnosed by ultrasonography in all patients, associated to renal cysts in one case. A patient underwent total right nephrectomy without any event during the follow-up. In a second patient, a selective arterial embolization of AML was indicated. Total left nephrectomy was performed due to the persistence of hematuria and the increased flank mass. Pathological examination of the kidney revealed a clear cell carcinoma. The third patient with small AML, associated with renal cysts, required careful monitoring. Renal manifestations in TSC are frequent and serious, they are the second leading cause of death after nervous lesions. Clinical and morphological aspects are variable and different therapeutic indications must be discussed.