Open AccessThe kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms
Author(s) -
Julian R. Sampson
Publication year - 1996
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/11.supp6.34
Subject(s) - tuberous sclerosis , medicine , pathology , kidney , renal cell carcinoma , genetic disorder , angiomyolipoma , kidney disease , disease
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.
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