{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:29:10Z","timestamp":1793035750386,"version":"4.5.0"},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,8]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in<jats:italic>COL4A3<\/jats:italic>(linked to Alport syndrome) and in the<jats:italic>GANAB<\/jats:italic>gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects. This suggests a potential synergic effect of both variants, which warrants further investigation.<\/jats:p>","DOI":"10.1136\/bcr-2023-259500","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T16:38:45Z","timestamp":1718383125000},"page":"e259500","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5124-973X","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Venda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"Henriques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,5,13]]},"reference":[{"key":"2024061408563276000_17.5.e259500.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2017.05.007"},{"key":"2024061408563276000_17.5.e259500.2","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.xkme.2020.05.014","article-title":"Alport syndrome classification and management","volume":"2","author":"Warady","year":"2020","journal-title":"Kidney Medicine"},{"key":"2024061408563276000_17.5.e259500.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.004"},{"key":"2024061408563276000_17.5.e259500.4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.5414\/CN109123","article-title":"A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome","volume":"88","author":"Ebner","year":"2017","journal-title":"Clin Nephrol"},{"key":"2024061408563276000_17.5.e259500.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024061408563276000_17.5.e259500.6","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0143-6"},{"key":"2024061408563276000_17.5.e259500.7","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/nrneph.2017.177","article-title":"Genetics of kidney diseases in 2017: unveiling the genetic architecture of kidney disease","volume":"14","author":"Devuyst","year":"2018","journal-title":"Nat Rev Nephrol"},{"key":"2024061408563276000_17.5.e259500.8","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1053\/j.ajkd.2021.04.017","article-title":"Pathogenic variants in the genes affected in alport syndrome (col4a3\u2013col4a5) and their association with other kidney conditions: a review","volume":"78","author":"Savige","year":"2021","journal-title":"American Journal of Kidney Diseases"},{"key":"2024061408563276000_17.5.e259500.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.xkme.2023.100631"},{"key":"2024061408563276000_17.5.e259500.10","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-018-1629-4"},{"key":"2024061408563276000_17.5.e259500.11","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.03120322"},{"key":"2024061408563276000_17.5.e259500.12","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1016\/j.ekir.2022.06.001","article-title":"Heterozygous pathogenic Col4A3 and Col4A4 variants (Autosomal dominant Alport syndrome) are common, and not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities","volume":"7","author":"Savige","year":"2022","journal-title":"Kidney International Reports"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259500","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T16:38:51Z","timestamp":1718383131000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259500"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,13]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-259500"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259500","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}