Tuberous Sclerosis Associated with Polycystic Kidney Disease: Effects of Rapamycin after Renal Transplantation

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. 1. Introduction 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. After treatment with rapamycin for immunosuppression there was a marked improvement of renal function, tuberous sclerosis manifestations, and renal polycystosis. 2. Clinical Case We present a 30-year-old male diagnosed with both tuberous sclerosis (TE) and autosomal dominant polycystic kidney disease. Clinical manifestations began a few months after his birth. He was also suffering from mental retardation, cardiac rhabdomyoma, and various other tumours (angiomyolipomas, hamartoma, cysts, and angiofibroma) including the liver, spleen, and kidneys (Figure 1). He had ungual and cutaneous fibromas and was further afflicted by complex partial seizures controlled with phenobarbital and carbamazepine. Figure 1: Abdominal CT (prior to renal transplantation) showing different lines of tumours in liver, spleen, and kidneys. He suffered from end-stage renal disease, and this had been treated with peritoneal dialysis from the age of 24. Two years later he received a renal cadaveric graft from a donor of the same age with two common HLA identities and reached a serum creatinine of 132.6？μmol/L.