2022
DOI: 10.3390/jcm11206084
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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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“…In our case, it occurred in association with both TSC and ADPKD. While AML is not typically associated with renal failure, its co-occurrence with ADPKD increases the risk of severely impaired renal function [ 6 ].…”
Section: Discussionmentioning
confidence: 99%
“…In our case, it occurred in association with both TSC and ADPKD. While AML is not typically associated with renal failure, its co-occurrence with ADPKD increases the risk of severely impaired renal function [ 6 ].…”
Section: Discussionmentioning
confidence: 99%