Chronic renal failure and its treatment in tuberous sclerosis

Abstract

Background: Chronic renal failure is rare in tuberous sclerosis, but its precise frequency is not known and treatment modalities have not been evaluated.

Methods: A questionnaire was addressed to the 260 French dialysis centres and the characteristics of 65 patients with tuberous sclerosis and chronic renal failure were analysed.

Results: In France the approximate prevalence of tuberous sclerosis with end-stage renal failure is 0.7 cases per million and that of end-stage renal failure in tuberous sclerosis 1 per 100. Tuberous sclerosis with chronic renal failure was more frequent in females (63.1%) and was diagnosed at a mean age of 29 years. Renal impairment was the first manifestation of tuberous sclerosis in about half the cases. Renal tumours were frequent, with angiomyolipomas in 15 cases (23.1%), cysts in 12 cases (18.5%), and both in 35 cases (53.8%). Malignancies were associated in nine cases (13.8%). Nephrectomy was done before dialysis in 21 cases (32.3%), and after the start of dialysis in six cases (9.2%). All but one of the 48 patients with end-stage renal failure were treated by dialysis; 20 were transplanted, with good results.

Conclusions: Tuberous sclerosis with end-stage renal failure is rare. These patients require dialysis and renal transplantation, but we recommend binephrectomy after starting dialysis and before transplantation, given the risk of cancer and bleeding related to angiomyolipomas.