Cystic renal disease in tuberous sclerosis.
The clinical and radiologic findings of tuberous sclerosis in three family members, which manifested as renal insufficiency due to extensive renal cystic disease, are described. The family was thought to have polycystic kidney disease until coexisting tiny angiomyolipomas were found among the cysts (by computed tomography in two patients and at autopsy in one). The radiologic and pathologic factors that establish the diagnosis of renal cystic disease associated with the tuberous sclerosis complex are reviewed.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D014463:Ultrasonography