Uremia in a family with tuberous sclerosis.
Tuberous sclerosis (TS) is characterized by the triade of epilepsy, mental retardation, and adenoma sebaceum. Although the kidneys are affected in 40-80% of the patients uremia is a rare finding. We here describe a family with TS, where uremia was a major feature of the disease, causing the death of 2 family members and requiring active replacement therapy in a third person, who now 11 years after renal transplantation, has normal renal function.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*; D014511:Uremia / Q000150:complications / Q000235:genetics* / Q000628:therapy