{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T12:30:05Z","timestamp":1787142605102,"version":"build-2736575974"},"reference-count":11,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Nefrolog\u00eda (English Edition)"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.nefroe.2026.501577","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:34:23Z","timestamp":1782214463000},"page":"501577","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["From clinical mimicry to accurate diagnosis: COL4A4-associated nephropathy hidden behind polycystic kidney disease"],"prefix":"10.1016","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3921-624X","authenticated-orcid":false,"given":"Mar\u00eda del Mar","family":"del \u00c1guila Garc\u00eda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio M.","family":"Poyatos And\u00fajar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana I.","family":"Morales Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda del Carmen","family":"Vel\u00e1zquez de Castro del Pino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Espigares Huete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael J.","family":"Esteban de la Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nefroe.2026.501577_bib0005","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2022.865034","article-title":"Genotype-phenotype correlations for pathogenic COL4A3\u2013COL4A5 variants in X-linked, autosomal recessive and autosomal dominant Alport syndrome","volume":"9","author":"Savige","year":"2022","journal-title":"Front Med."},{"key":"10.1016\/j.nefroe.2026.501577_bib0010","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/ndt\/gfae265","article-title":"ERKNet, ERA Genes&Kidney and ESPN Inherited renal disorders working group. Diagnosis, management and treatment of the Alport syndrome 2024 guideline on behalf of ERKNet, ERA and ESPN","volume":"40","author":"Torra","year":"2025","journal-title":"Nephrol Dial Transplant."},{"key":"10.1016\/j.nefroe.2026.501577_bib0015","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1093\/ndt\/gfae031","article-title":"Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants","volume":"39","author":"Furlano","year":"2024","journal-title":"Nephrol Dial Transplant."},{"key":"10.1016\/j.nefroe.2026.501577_bib0020","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1053\/j.ajkd.2024.02.005","article-title":"Clinical significance of the cystic phenotype in alport syndrome","volume":"84","author":"Zeni","year":"2024","journal-title":"Am J Kidney Dis."},{"key":"10.1016\/j.nefroe.2026.501577_bib0025","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"10.1016\/j.nefroe.2026.501577_bib0030","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1053\/j.ajkd.2021.02.326","article-title":"Clinical and genetic features of autosomal dominant Alport syndrome: a cohort study","volume":"78","author":"Furlano","year":"2021","journal-title":"Am J Kidney Dis."},{"key":"10.1016\/j.nefroe.2026.501577_bib0035","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nrneph.2014.95","article-title":"Next-generation sequencing for research and diagnostics in kidney disease","volume":"10","author":"Renkema","year":"2014","journal-title":"Nat Rev Nephrol."},{"key":"10.1016\/j.nefroe.2026.501577_bib0040","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.kint.2024.07.010","article-title":"KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary","volume":"107","author":"Torres","year":"2025","journal-title":"Kidney Int."},{"key":"10.1016\/j.nefroe.2026.501577_bib0045","article-title":"Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases-not yet ready for prime time!","volume":"17","author":"Torra","year":"2023","journal-title":"Clin Kidney J."},{"key":"10.1016\/j.nefroe.2026.501577_bib0050","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1093\/ndt\/gfae022","article-title":"Beyond DNA sequencing: genetic kidney disorders related to altered splicing","volume":"39","author":"McCarthy","year":"2024","journal-title":"Nephrol Dial Transplant."},{"key":"10.1016\/j.nefroe.2026.501577_bib0055","first-page":"631","article-title":"Genetic testing in adults over 50 years with chronic kidney disease: diagnostic yield and clinical utility","volume":"10","author":"Schott","year":"2025","journal-title":"Kidney Int Rep."}],"container-title":["Nefrolog\u00eda (English Edition)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2013251426001483?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2013251426001483?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T11:45:07Z","timestamp":1787139907000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2013251426001483"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["S2013251426001483"],"URL":"https:\/\/doi.org\/10.1016\/j.nefroe.2026.501577","relation":{},"ISSN":["2013-2514"],"issn-type":[{"value":"2013-2514","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"From clinical mimicry to accurate diagnosis: COL4A4-associated nephropathy hidden behind polycystic kidney disease","name":"articletitle","label":"Article Title"},{"value":"Nefrolog\u00eda (English Edition)","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nefroe.2026.501577","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.nefro.2026.501577","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Sociedad Espa\u00f1ola de Nefrolog\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}],"article-number":"501577"}}