The kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms.
Renal involvement is common in tuberous sclerosis. Angiomyolipomas and cysts are found in approximately 50 and 30% of patients respectively, and often occur together. Tuberous sclerosis also appears to be associated with a small but increased risk of renal cell carcinoma. Recent studies have begun to elucidate the molecular genetic mechanisms underlying the renal manifestations of this systemic autosomal dominant disorder.
Sampson
J R
JR
Institute of Medical Genetics, University of Wales College of Medicine, University Hospital of Wales, Cardiff, UK.
D018207:Angiomyolipoma / Q000209:etiology; D002292:Carcinoma, Renal Cell / Q000209:etiology; D003560:Cysts / Q000209:etiology; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D007680:Kidney Neoplasms / Q000209:etiology; D008967:Molecular Biology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics