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

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)
18 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 languageEnglish
Article number6084
Pages (from-to)1-7
Number of pages7
JournalJournal of Clinical Medicine
Volume11
Issue number20
DOIs
Publication statusPublished - 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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