{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T16:02:39Z","timestamp":1783612959349,"version":"3.55.0"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100012921","name":"Royal College of Surgeons in Ireland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012921","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Alport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3\/4\/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case<\/jats:title>\n                <jats:p>A 15-year-old female presented with pedal oedema, hypertension and proteinuria. She underwent a kidney biopsy which showed findings in keeping with focal segmental glomerulosclerosis. Her condition was refractory to steroids. Steroid-resistant nephrotic syndrome genetics were sent, revealing a rare pathogenic variant in the <jats:italic>COL4A5<\/jats:italic> gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Heterozygous females with X-linked Alport syndrome can develop chronic kidney disease and hearing loss. Clinicians should be mindful when reviewing kidney histology to include Alport syndrome as a differential for female patients. <jats:italic>COL4A3-5<\/jats:italic> genes should be included in all\u00a0steroid-resistant nephrotic syndrome genetic panels.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00467-024-06408-3","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T09:02:12Z","timestamp":1716454932000},"page":"3205-3208","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["An unusual case of nephrotic syndrome"],"prefix":"10.1007","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6281-5713","authenticated-orcid":false,"given":"Dermot Michael","family":"Wildes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisling","family":"Fitzsimons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clodagh","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atif","family":"Awan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,23]]},"reference":[{"key":"6408_CR1","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1111\/cge.12258","volume":"86","author":"C Fallerini","year":"2014","unstructured":"Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F (2014) Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet 86:252\u2013257. https:\/\/doi.org\/10.1111\/cge.12258","journal-title":"Clin Genet"},{"key":"6408_CR2","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1086\/302106","volume":"63","author":"E Boye","year":"1998","unstructured":"Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C (1998) Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet 63:1329\u20131340","journal-title":"Am J Hum Genet"},{"key":"6408_CR3","doi-asserted-by":"publisher","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \u201cEuropean Community Alport Syndrome Concerted Action\u201d study. J Am Soc Nephrol 14:2603\u20132610","journal-title":"J Am Soc Nephrol"},{"key":"6408_CR4","doi-asserted-by":"publisher","first-page":"101941","DOI":"10.1016\/j.trim.2023.101941","volume":"81","author":"Z Deng","year":"2023","unstructured":"Deng Z, Zhou Q, Zhou TG (2023) A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation. Transpl Immunol 81:101941. https:\/\/doi.org\/10.1016\/j.trim.2023.101941","journal-title":"Transpl Immunol"},{"key":"6408_CR5","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/s00467-011-1836-7","volume":"27","author":"MN Rheault","year":"2012","unstructured":"Rheault MN (2012) Women and Alport syndrome. Pediatr Nephrol 27:41\u201346. https:\/\/doi.org\/10.1007\/s00467-011-1836-7","journal-title":"Pediatr Nephrol"},{"key":"6408_CR6","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.semnephrol.2022.04.002","volume":"42","author":"C Quinlan","year":"2022","unstructured":"Quinlan C, Rheault MN (2022) X-linked kidney disorders in women. Semin Nephrol 42:114\u2013121. https:\/\/doi.org\/10.1016\/j.semnephrol.2022.04.002","journal-title":"Semin Nephrol"},{"key":"6408_CR7","doi-asserted-by":"publisher","first-page":"2165","DOI":"10.1007\/s00467-010-1514-1","volume":"25","author":"K Iijima","year":"2010","unstructured":"Iijima K, Nozu K, Kamei K et al (2010) Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. Pediatr Nephrol 25:2165\u20132170. https:\/\/doi.org\/10.1007\/s00467-010-1514-1","journal-title":"Pediatr Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06408-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-024-06408-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06408-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T11:26:38Z","timestamp":1726745198000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-024-06408-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,23]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["6408"],"URL":"https:\/\/doi.org\/10.1007\/s00467-024-06408-3","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,23]]},"assertion":[{"value":"12 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient has consented for the use of their data in this publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient consent"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}