{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T14:10:00Z","timestamp":1784297400416,"version":"3.55.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T00:00:00Z","timestamp":1602547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T00:00:00Z","timestamp":1602547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK007006-43"],"award-info":[{"award-number":["DK007006-43"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1007\/s00467-020-04748-4","type":"journal-article","created":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T13:04:20Z","timestamp":1602594260000},"page":"945-951","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Long-term outcome among females with Alport syndrome from a single pediatric center"],"prefix":"10.1007","volume":"36","author":[{"given":"Selasie","family":"Goka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Copelovitch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1869-3282","authenticated-orcid":false,"given":"Daniella","family":"Levy Erez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,13]]},"reference":[{"key":"4748_CR1","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1007\/s00467-019-04241-7","volume":"35","author":"MN Rheault","year":"2020","unstructured":"Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, Parziale G, Gross O, Flinter FA, Miner JH, Lagas S, Gear S, Lennon R (2020) The importance of clinician, patient and researcher collaborations in Alport syndrome. Pediatr Nephrol 35:733\u2013742","journal-title":"Pediatr Nephrol"},{"key":"4748_CR2","first-page":"916","volume":"32","author":"O Gross","year":"2017","unstructured":"Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R (2017) Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 international workshop on Alport syndrome. Nephrol Dial Transplant 32:916\u2013924","journal-title":"Nephrol Dial Transplant"},{"key":"4748_CR3","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1007\/s00467-017-3784-3","volume":"33","author":"Y Zhang","year":"2018","unstructured":"Zhang Y, Ding J (2018) Renal, auricular, and ocular outcomes of Alport syndrome and their current management. Pediatr Nephrol 33:1309\u20131316","journal-title":"Pediatr Nephrol"},{"key":"4748_CR4","doi-asserted-by":"publisher","first-page":"2277","DOI":"10.1093\/ndt\/gfu254","volume":"29","author":"A Mallett","year":"2014","unstructured":"Mallett A, Tang W, Clayton PA, Stevenson S, McDonald SP, Hawley CM, Badve SV, Boudville N, Brown FG, Campbell SB, Johnson DW (2014) End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand dialysis and transplant registry cases. Nephrol Dial Transplant 29:2277\u20132286","journal-title":"Nephrol Dial Transplant"},{"key":"4748_CR5","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1007\/s00467-015-3302-4","volume":"31","author":"S Weber","year":"2016","unstructured":"Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J (2016) Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatr Nephrol 31:941\u2013955","journal-title":"Pediatr Nephrol"},{"key":"4748_CR6","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1053\/j.ajkd.2017.09.005","volume":"71","author":"M Barua","year":"2018","unstructured":"Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, K\u00f6ttgen A, Cattran D, Paterson AD, Pei Y (2018) X-linked glomerulopathy due to COL4A5 founder variant. Am J Kidney Dis 71:441\u2013445","journal-title":"Am J Kidney Dis"},{"key":"4748_CR7","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/nrneph.2012.259","volume":"9","author":"J Kruegel","year":"2013","unstructured":"Kruegel J, Rubel D, Gross O (2013) Alport syndrome-insights from basic and clinical research. Nat Rev Nephrol 9:170\u2013178","journal-title":"Nat Rev Nephrol"},{"key":"4748_CR8","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3109\/13816819709041431","volume":"18","author":"DJ Colville","year":"1997","unstructured":"Colville DJ, Savige J (1997) Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 18:161\u2013173","journal-title":"Ophthalmic Genet"},{"key":"4748_CR9","doi-asserted-by":"publisher","first-page":"1633","DOI":"10.1016\/S0002-9440(10)65417-X","volume":"154","author":"JH Miner","year":"1999","unstructured":"Miner JH (1999) Alport syndrome with diffuse leiomyomatosis: when and when not? Am J Pathol 154:1633\u20131635","journal-title":"Am J Pathol"},{"key":"4748_CR10","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.2215\/CJN.00580116","volume":"11","author":"J Savige","year":"2016","unstructured":"Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F (2016) Alport syndrome in women and girls. Clin J Am Soc Nephrol 11:1713\u20131720","journal-title":"Clin J Am Soc Nephrol"},{"key":"4748_CR11","doi-asserted-by":"publisher","first-page":"3554","DOI":"10.1093\/ndt\/gfq271","volume":"25","author":"CE Kashtan","year":"2010","unstructured":"Kashtan CE, Segal Y, Flinter F, Makanjuola D, Gan JS, Watnick T (2010) Aortic abnormalities in males with Alport syndrome. Nephrol Dial Transplant 25:3554\u20133560","journal-title":"Nephrol Dial Transplant"},{"key":"4748_CR12","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.ekir.2017.04.011","volume":"2","author":"T Yamamura","year":"2017","unstructured":"Yamamura T, Nozu K, Fu XJ, Nozu Y, Ye MJ, Shono A, Yamanouchi S, Minamikawa S, Morisada N, Nakanishi K, Shima Y, Yoshikawa N, Ninchoji T, Morioka I, Kaito H, Iijima K (2017) Natural history and genotype\u2013phenotype correlation in female X-linked Alport syndrome. Kidney Int Rep 2:850\u2013855","journal-title":"Kidney Int Rep"},{"key":"4748_CR13","doi-asserted-by":"publisher","first-page":"296","DOI":"10.5414\/CN108561","volume":"84","author":"SC Allred","year":"2015","unstructured":"Allred SC, Weck KE, Gasim A, Mottl AK (2015) Phenotypic heterogeneity in females with X-linked Alport syndrome. Clin Nephrol 84:296\u2013300","journal-title":"Clin Nephrol"},{"key":"4748_CR14","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","volume":"42","author":"PA Harris","year":"2009","unstructured":"Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG (2009) Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42:377\u2013381","journal-title":"J Biomed Inform"},{"key":"4748_CR15","doi-asserted-by":"publisher","first-page":"103208","DOI":"10.1016\/j.jbi.2019.103208","volume":"95","author":"PA Harris","year":"2019","unstructured":"Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L, McLeod L, Delacqua G, Delacqua F, Kirby J, Duda SN, REDCap Consortium (2019) The REDCap consortium: building an international community of software platform partners. J Biomed Inform 95:103208","journal-title":"J Biomed Inform"},{"key":"4748_CR16","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/j.jbi.2012.10.006","volume":"46","author":"JS Obeid","year":"2013","unstructured":"Obeid JS, McGraw CA, Minor BL, Conde JG, Pawluk R, Lin M, Wang J, Banks SR, Hemphill SA, Taylor R, Harris PA (2013) Procurement of shared data instruments for research electronic data capture (REDCap). J Biomed Inform 46:259\u2013265","journal-title":"J Biomed Inform"},{"key":"4748_CR17","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","journal-title":"Pediatr Nephrol"},{"key":"4748_CR18","first-page":"267","volume":"23","author":"JP Grunfeld","year":"1985","unstructured":"Grunfeld JP, Noel LH, Hafez S, Droz D (1985) Renal prognosis in women with hereditary nephritis. Clin Nephrol 23:267\u2013271","journal-title":"Clin Nephrol"},{"key":"4748_CR19","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, Schr\u00f6der 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":"4748_CR20","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/BF02309857","volume":"155","author":"S Barten","year":"1996","unstructured":"Barten S, Proesmans W (1996) Alport syndrome: clinical experience with 21 paediatric patients. Eur J Pediatr 155:49\u201352","journal-title":"Eur J Pediatr"},{"key":"4748_CR21","doi-asserted-by":"crossref","unstructured":"Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R (1981) Alport\u2019s syndrome. A report of 58 cases and a review of the literature. Am J Med 70:493\u2013505","DOI":"10.1016\/0002-9343(81)90571-4"},{"key":"4748_CR22","first-page":"84","volume":"124","author":"AC Ferguson","year":"1972","unstructured":"Ferguson AC, Rance CP (1972) Hereditary nephropathy with nerve deafness (Alport\u2019s syndrome). Am J Dis Child 124:84\u201388","journal-title":"Am J Dis Child"},{"key":"4748_CR23","doi-asserted-by":"publisher","first-page":"178","DOI":"10.3390\/jcm8020178","volume":"8","author":"J Lee","year":"2019","unstructured":"Lee J, Nozu K, Choi D, Kang H, Ha I-S, Cheong H (2019) Features of autosomal recessive Alport syndrome: a systematic review. J Clin Med 8:178","journal-title":"J Clin Med"},{"key":"4748_CR24","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.2215\/CJN.01000116","volume":"11","author":"N Kamiyoshi","year":"2016","unstructured":"Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K (2016) Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport syndrome. Clin J Am Soc Nephrol 11:1441\u20131449","journal-title":"Clin J Am Soc Nephrol"},{"key":"4748_CR25","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schr\u00f6der C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649\u2013657","journal-title":"J Am Soc Nephrol"},{"key":"4748_CR26","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1093\/ndt\/gfp551","volume":"25","author":"MN Rheault","year":"2010","unstructured":"Rheault MN, Kren SM, Hartich LA, Wall M, Thomas W, Mesa HA, Avner P, Lees GE, Kashtan CE, Segal Y (2010) X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome. Nephrol Dial Transplant 25:764\u2013769","journal-title":"Nephrol Dial Transplant"},{"key":"4748_CR27","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s00467-012-2372-9","volume":"28","author":"NJA Webb","year":"2013","unstructured":"Webb NJA, Shahinfar S, Wells TG, Massaad R, Gleim GW, Sisk CMC, Lam C (2013) Losartan and enalapril are comparable in reducing proteinuria in children with Alport syndrome. Pediatr Nephrol 28:737\u2013743","journal-title":"Pediatr Nephrol"},{"key":"4748_CR28","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/ki.2011.452","volume":"81","author":"J Temme","year":"2012","unstructured":"Temme J, Peters F, Lange K, Pirson Y, Heidet L, Torra R, Grunfeld JP, Weber M, Licht C, M\u00fcller GA, Gross O (2012) Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int 81:779\u2013783","journal-title":"Kidney Int"},{"key":"4748_CR29","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1007\/s00467-012-2138-4","volume":"28","author":"CE Kashtan","year":"2013","unstructured":"Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, Rheault M, Licht C, Alport Syndrome Research Collaborative (2013) Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol 28:5\u201311","journal-title":"Pediatr Nephrol"},{"key":"4748_CR30","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1186\/s13023-018-0974-4","volume":"13","author":"X Zhang","year":"2018","unstructured":"Zhang X, Zhang Y, Zhang Y, Gu H, Chen Z, Ren L, Lu X, Chen L, Wang F, Liu Y, Ding J (2018) X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males Dr. Segolene Ayme. Orphanet J Rare Dis 13:229","journal-title":"Orphanet J Rare Dis"},{"key":"4748_CR31","doi-asserted-by":"publisher","first-page":"1464","DOI":"10.1093\/ndt\/gfn681","volume":"24","author":"E Marcocci","year":"2009","unstructured":"Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombol\u00e0 G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F (2009) Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant 24:1464\u20131471","journal-title":"Nephrol Dial Transplant"},{"key":"4748_CR32","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1016\/j.kint.2019.12.015","volume":"97","author":"O Gross","year":"2020","unstructured":"Gross O, T\u00f6nshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Zappel H, Hoyer P, Staude H, K\u00f6nig S, John U, Gellermann J, Hoppe B, Galiano M, Hoecker B, Ehren R, Lerch C, Kashtan CE, Harden M, Boeckhaus J, Friede T, German Pediatric Nephrology (GPN) Study Group and EARLY PRO-TECT Alport Investigators (2020) A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport\u2019s syndrome. Kidney Int 97:1275\u20131286","journal-title":"Kidney Int"},{"key":"4748_CR33","doi-asserted-by":"crossref","unstructured":"Gross O, Appel G, Block G, Chin M, Goldsberry A, Inker L, Meyer C, Pergola P, Simon J, Warady B, Zaoui P, Rheault M, Kashtan C (2018) A phase 2\/3 study of the efficacy and safety of Bardoxolone methyl in patients with Alport syndrome. Nephrol Dial Transplant 33(suppl_1):i384\u2013i385 (SP121)","DOI":"10.1093\/ndt\/gfy104.SP121"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-020-04748-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-020-04748-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-020-04748-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T11:04:48Z","timestamp":1634123088000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-020-04748-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,13]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["4748"],"URL":"https:\/\/doi.org\/10.1007\/s00467-020-04748-4","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,13]]},"assertion":[{"value":"16 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 October 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"No code available.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}