{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:45:39Z","timestamp":1776048339403,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"ABSTRACT<\/jats:title>\n \n Tuberous sclerosis complex (TSC) is a multisystem condition associated with disease\u2010causing variants of either\n TSC1<\/jats:italic>\n or\n TSC2<\/jats:italic>\n genes. Significant kidney involvement in TSC is most often due to development of angiomyolipomas (AMLs) and occurs more frequently in people with\n TSC2<\/jats:italic>\n variants. Kidney cysts are also commonly seen; however, these are usually small and not recognised as problematic. A subset of patients has a severe polycystic kidney disease due to a contiguous gene deletion involving\n PKD1<\/jats:italic>\n and\n TSC2<\/jats:italic>\n on chromosome 16. End\u2010stage kidney disease (ESKD) occurs commonly in patients with\n TSC2\/PKD1<\/jats:italic>\n deletions but is otherwise rare. We report a family with a\n TSC1<\/jats:italic>\n variant. The father, a 34\u2010year\u2010old male, presented with chronic kidney disease with eGFR 31\u2009mL\/min, proteinuria 1.2\u2009g\/day and hypertension. Ultrasound showed small cystic kidneys. Coincidentally, his 2\u2010year\u2010old daughter presented with seizures and had skin lesions and neurological signs consistent with TSC. Her 1\u2010year\u2010old brother also met TSC diagnostic criteria. Further investigations of the father showed typical skin lesions and cerebral tubers. Genetic testing identified a variant in\n TSC1<\/jats:italic>\n . The father progressed to ESKD and subsequently received a kidney transplant. His two children have similar renal ultrasounds with multiple cysts; now aged 18 and 16\u2009years, they have normal eGFR and no proteinuria. This family manifests a rarely described multicystic phenotype and\n TSC1<\/jats:italic>\n variant. The father's case demonstrates the risk of progressive kidney disease in TSC, even in the absence of AMLs or\n TSC2\/PKD1<\/jats:italic>\n contiguous deletion, and highlights the importance of renal monitoring of all adults with TSC.\n <\/jats:p>","DOI":"10.1111\/nep.70177","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:32:49Z","timestamp":1772969569000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4214-5115","authenticated-orcid":false,"given":"Julia S.","family":"Donald","sequence":"first","affiliation":[{"name":"Nephrology Sydney Children's Hospital Randwick Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Edmonstone","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7039-8400","authenticated-orcid":false,"given":"Denise L.","family":"Chan","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney Australia"},{"name":"Neurology Sydney Children's Hospital Randwick Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1319-7570","authenticated-orcid":false,"given":"Clara W. T.","family":"Chung","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney Australia"},{"name":"Centre for Clinical Genetics Sydney Children's Hospital Randwick Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean E.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Nephrology Sydney Children's Hospital Randwick Australia"},{"name":"Discipline of Paediatrics and Child Health School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,1]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2021.100875"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20080281"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0596-2"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13352"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00972"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31654"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4003-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803068c7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0823-4"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfy132"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40620-020-00714-3"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.14765"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-024-00818-0"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.05.015"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-024-03743-3"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2023.04.016"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70177","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70177","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:08:57Z","timestamp":1776046137000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/nep.70177"],"URL":"https:\/\/doi.org\/10.1111\/nep.70177","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2025-08-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70177"}}