Abstract
Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary in order to attain the effective doses due to the enzymatic induction caused by concomitant treatment with antiepileptic drugs. These high doses resulted in nephrotoxicity. Immunosuppressor treatment was switched to rapamycin, whereby an improvement in renal function and other signs of tuberous sclerosis and polycystic kidney disease was observed. This case report highlights both the efficacy and safety of rapamycin as an immunosuppressor treatment and its capacity for controlling other symptoms of these genetic-related disorders.
Highlights
Tuberous sclerosis is a multisystemic genetic disease
Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. is association leads to an increased frequency of end-stage renal disease
We present a 30-year-old male diagnosed with both tuberous sclerosis (TE) and autosomal dominant polycystic kidney disease
Summary
Tuberous sclerosis is a multisystemic genetic disease. Overexpression of mTOR gene is the cause of a wide range of tumours that leads to end-stage renal disease by kidney involvement. Renal polycystosis forms if the patient reaches adulthood due to the development of multiple cyst, angiomyolipomas, and carcinomas in renal parenchyma [1]. Good outcomes under treatment of mTOR inhibitors have been previously reported. We present a 30-year-old male with end-stage renal disease secondary to tuberous sclerosis and renal polycystosis. A er treatment with rapamycin for immunosuppression there was a marked improvement of renal function, tuberous sclerosis manifestations, and renal polycystosis
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