What are the tubules in tuberous sclerosis and what are the renal affects of the condition?

The Bottom Line: Renal failure in tuberous sclerosis is related to nephronic reduction from tumor invasion.  Cysts, composed of abnormal blood vessels, smooth
muscle, and adipose tissue, cause hyperfiltration of remaining glomeruli, creating focal glomerulosclerosis. The tumors are essentially angiomyolipomas and cysts.

Curatolo P, et al.  Tuberous sclerosis.  Lancet.  2008; 372(9639): 657-668.

Sarraf M, Masoumi A, Castro-Silva FJ, Myers JB, Wilson SS, Schrier RW.  A case of tuberous sclerosis complex that progressed to end-stage renal disease.  Nature Clinical Practice Nephrology (2009) 5, 172-176.

Summary: Tuberous sclerosis is an autosomal dominant hereditary disease characterized by a high rate of spontaneous mutations and genetic heterogeneity.  Renal complications have been found in 70-90% of patients with TSC and result from growth of tumors, which decrease kidney function and are at risk for hemorrhage.  Patients also have increased risk of developing renal cell carcinoma.

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