Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review-Reference-Cited by-同舟云学术

Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review

Published:2022-10-15 Issue:20 Volume:11 Page:6084
ISSN:2077-0383
Container-title:Journal of Clinical Medicine
language:en
Short-container-title:JCM

Author:

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

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.

Publisher

MDPI AG

Subject

General Medicine

Link

https://www.mdpi.com/2077-0383/11/20/6084/pdf

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5. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

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1. A Rare Case of Renal Angiomyolipoma and Polycystic Kidney Disease in a Patient with Tuberous Sclerosis;Cureus;2024-06-24

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