{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:57:03Z","timestamp":1785333423650,"version":"3.55.0"},"reference-count":16,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,15]],"date-time":"2022-10-15T00:00:00Z","timestamp":1665792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/jcm11206084","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T02:29:46Z","timestamp":1665973786000},"page":"6084","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Mitchell","family":"Hunter-Dickson","sequence":"first","affiliation":[{"name":"Department of Renal Medicine, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, Royal North Shore Hospital, St Leonards, NSW 2065, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1649-8101","authenticated-orcid":false,"given":"Akshay","family":"Athavale","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia"},{"name":"Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia"},{"name":"Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia"},{"name":"Renal and Metabolic Division, The George Institute for Global Health, The University of New South Wales, Sydney, NSW 2052, Australia"},{"name":"The Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,15]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat. Rev. Diease Prim."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1365-4632.2010.04727.x","article-title":"Tuberous sclerosis complex tumors and tumorigenesis","volume":"50","author":"Borkowska","year":"2011","journal-title":"Int. J. Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1056\/NEJMra055323","article-title":"The Tuberous Sclerosis Complex","volume":"355","author":"Crino","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/S0140-6736(12)61767-X","article-title":"Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): A multicentre, randomised, double-blind, placebo-controlled trial","volume":"381","author":"Bissler","year":"2013","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Tyburczy, M.E., Dies, K.A., Glass, J., Camposano, S., Chekaluk, Y., Thorner, A.R., Lin, L., Krueger, D., Franz, D.N., and Thiele, E.A. (2015). Mosaic and Intronic Mutations in TSC1\/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005637"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations","volume":"123","author":"Northrup","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_7","first-page":"924","article-title":"Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond","volume":"37","author":"Dillman","year":"2017","journal-title":"Pediatr. 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Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0158476"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/ndt\/gfv249","article-title":"Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: Extension of a randomized controlled trial","volume":"31","author":"Bissler","year":"2016","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13023-018-0781-y","article-title":"Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: A two years trial","volume":"13","author":"Cai","year":"2018","journal-title":"Orphanet J. 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Pharmacol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"193","DOI":"10.4103\/0971-9784.114244","article-title":"New orally active anticoagulants in critical care and anesthesia practice: The good, the bad and the ugly","volume":"16","author":"Sehgal","year":"2013","journal-title":"Ann. Card. Anaesth."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/20\/6084\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:54:39Z","timestamp":1760144079000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/20\/6084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,15]]},"references-count":16,"journal-issue":{"issue":"20","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["jcm11206084"],"URL":"https:\/\/doi.org\/10.3390\/jcm11206084","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,15]]}}}