Management of renal angiomyolipomas in tuberous sclerosis complex: a case report and literature review

Mitchell Hunter-Dickson; Patrick Wu; Akshay Athavale; Amanda Ying Wang

doi:10.3390/jcm11206084

Management of renal angiomyolipomas in tuberous sclerosis complex: a case report and literature review

Mitchell Hunter-Dickson, Patrick Wu, Akshay Athavale, Amanda Ying Wang^*

^*Corresponding author for this work

Macquarie Medical School

Research output: Contribution to journal › Review article › peer-review

1 Citation (Scopus)

69 Downloads (Pure)

Abstract

We report a case of misdiagnosed tuberous sclerosis complex (TSC) in a patient without TSC gene variant presenting with bilateral renal angiomyolipomas and seizures in the context of strong family history of polycystic kidney disease. Clinical diagnosis of tuberous sclerosis complex was made and treatment with everolimus reduced size of renal angiomyolipomas. In this case, report we discuss the association between tuberous sclerosis complex and polycystic kidney disease and novel treatment for TSC.

Original language	English
Article number	6084
Pages (from-to)	1-7
Number of pages	7
Journal	Journal of Clinical Medicine
Volume	11
Issue number	20
DOIs	https://doi.org/10.3390/jcm11206084
Publication status	Published - 15 Oct 2022

Bibliographical note

Copyright the Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

angiomyolipoma
cystic kidney disease
everolimus
genetics
tuberous sclerosis

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10.3390/jcm11206084Licence: CC BY

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title = "Management of renal angiomyolipomas in tuberous sclerosis complex: a case report and literature review",

abstract = "We report a case of misdiagnosed tuberous sclerosis complex (TSC) in a patient without TSC gene variant presenting with bilateral renal angiomyolipomas and seizures in the context of strong family history of polycystic kidney disease. Clinical diagnosis of tuberous sclerosis complex was made and treatment with everolimus reduced size of renal angiomyolipomas. In this case, report we discuss the association between tuberous sclerosis complex and polycystic kidney disease and novel treatment for TSC.",

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AB - We report a case of misdiagnosed tuberous sclerosis complex (TSC) in a patient without TSC gene variant presenting with bilateral renal angiomyolipomas and seizures in the context of strong family history of polycystic kidney disease. Clinical diagnosis of tuberous sclerosis complex was made and treatment with everolimus reduced size of renal angiomyolipomas. In this case, report we discuss the association between tuberous sclerosis complex and polycystic kidney disease and novel treatment for TSC.

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Management of renal angiomyolipomas in tuberous sclerosis complex: a case report and literature review

Abstract

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