Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects

J. G. van Baal; P. Fleury; W. H. Brummelkamp

doi:10.1111/j.1399-0004.1989.tb02924.x

Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects

J. G. van Baal^*
, P. Fleury
, W. H. Brummelkamp

^*Corresponding author for this work

University of Amsterdam

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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. Copyright © 1989, Wiley Blackwell. All rights reserved

Original language	English
Pages (from-to)	167-173
Journal	Clinical genetics
Volume	35
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.1989.tb02924.x
Publication status	Published - 1989
Externally published	Yes

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10.1111/j.1399-0004.1989.tb02924.x

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title = "Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects",

abstract = "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. Copyright {\textcopyright} 1989, Wiley Blackwell. All rights reserved",

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T1 - Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects

AU - van Baal, J. G.

AU - Fleury, P.

AU - Brummelkamp, W. H.

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AB - 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. Copyright © 1989, Wiley Blackwell. All rights reserved

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UR - https://www.ncbi.nlm.nih.gov/pubmed/2706800

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VL - 35

SP - 167

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JO - Clinical genetics

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Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects

Abstract

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