Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects.
Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient with tuberous sclerosis had small renal angiomyolipomas without signs of tuberous sclerosis. This indicates that renal angiomyolipomas might be a forme fruste of tuberous sclerosis. Two patients with suspected isolated renal angiomyolipomas proved to have tuberous sclerosis. From this study we can conclude that multiple angiomyolipomas, or a combination of a single renal hamartoma with one of the signs suggestive of tuberous sclerosis, warrant a thorough examination to exclude tuberous sclerosis.
van Baal
J G
JG
Department of Surgery, University of Amsterdam, The Netherlands.
Fleury
P
P
Brummelkamp
W H
WH
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006391:Hemangioma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics*; D008067:Lipoma / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*