Sirolimus and tuberous sclerosis-associated renal angiomyolipomas

Abstract

Tuberous sclerosis, caused by germline mutations in the TSC1 or TSC2 genes, is associated with aberrant upregulation of the mammalian target of rapamycin (mTOR) signalling pathway, resulting in growth of tumours, including renal angiomyolipomas (AMLs). AMLs may cause hypertension, renal failure and spontaneous life-threatening haemorrhage. Previously, invasive interventions were required to treat AMLs. More recently, mTOR inhibitors have been used as molecularly targeted treatment to treat AMLs. We present here the case of a paediatric patient with TSC in whom sirolimus has been used successfully to halt growth of renal AMLs.