Tuberous Sclerosis and stage 5 chronic kidney disease

End stage renal disease is a rare manifestation of tuberous sclerosis (TS), but it can impact significantly on its morbidity and mortality. Early diagnosis and treatment such as prophylactic embolization of angyomiolipomas at risk of bleeding may modify the natural history of the disease by delaying some of its complications or avoiding them altogether. On the contrary autosomal dominant polycystic disease (PCK1), is a frequent cause of end stage renal failure and both conditions are caused by defective adjacent genes in chromosome 16p. A 28 years old Caucasian male was referred to us to start chronic hemodialysis with a diagnosis of seizures in infancy, hypertension. and macroscopic hematuria. Further evaluation lead to the identification of facial angiofibroma, periungual fibromas, multiple renal cysts and mental retardation, and based upon all these findings a diagnosis of tuberous sclerosis related to or associated with PCK1 is postulated. Given the incidence of malignancy in TS, when nephrectomy is not performed regular follow up is advised because of the uncertain course of the renal lesions, particularly with reference to the angiomyolipomas, curiously absent in the case under discussion. When transplantation is being considered, nephrectomy once end stage renal disease has been reached is probably in order given the possible role of immunosupression in the induction of malignancies. Living related donors must be carefully screened for subclinical lesions.