{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:40:08Z","timestamp":1762868408956,"version":"3.37.3"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T00:00:00Z","timestamp":1611187200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T00:00:00Z","timestamp":1611187200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1007\/s13730-021-00574-1","type":"journal-article","created":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T12:03:35Z","timestamp":1611230615000},"page":"359-363","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing"],"prefix":"10.1007","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0174-5728","authenticated-orcid":false,"given":"Koji","family":"Sakuraya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitohiko","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"China","family":"Nagano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Horinouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichiro","family":"Fujinaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Ohtomo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,1,21]]},"reference":[{"key":"574_CR1","first-page":"184","volume":"12","author":"M Pierson","year":"1963","unstructured":"Pierson M, Cordier J, Hervouuet F, Rauber G. An unusual congenital and familial congenital malformative combination involving the eye and kidney. J Genet Hum. 1963;12:184\u2013213.","journal-title":"J Genet Hum"},{"key":"574_CR2","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1002\/humu.21304","volume":"31","author":"V Matejas","year":"2010","unstructured":"Matejas V, Hinkes B, Alkandari F, et al. Mutations in the human laminin beta 2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010;31:992\u20131002.","journal-title":"Hum Mutat"},{"key":"574_CR3","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1002\/ajmg.a.30310","volume":"130A","author":"M Zenker","year":"2004","unstructured":"Zenker M, Tralau T, Lennert T, et al. Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet. 2004;130A:138\u201345.","journal-title":"Am J Med Genet"},{"key":"574_CR4","doi-asserted-by":"publisher","first-page":"2016","DOI":"10.1046\/j.1523-1755.1999.00785.x","volume":"56","author":"JH Miner","year":"1999","unstructured":"Miner JH. Renal basement components. Kidney Int. 1999;56:2016\u201324.","journal-title":"Kidney Int"},{"key":"574_CR5","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","volume":"70","author":"K Hasselbacher","year":"2006","unstructured":"Hasselbacher K, Wiggins RC, Matejas V, et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70:1008\u201312.","journal-title":"Kidney Int"},{"key":"574_CR6","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1007\/s00467-008-0748-7","volume":"23","author":"HJ Choi","year":"2008","unstructured":"Choi HJ, Lee BH, Kang JH, et al. Variable phenotype of Pierson syndrome. Pediatr Nephrol. 2008;23:995\u20131000.","journal-title":"Pediatr Nephrol"},{"key":"574_CR7","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/s00467-007-0624-x","volume":"23","author":"M Kagan","year":"2008","unstructured":"Kagan M, Cohen AH, Matejas V, et al. A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23:323\u20137.","journal-title":"Pediatr Nephrol"},{"key":"574_CR8","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1007\/s00467-011-2088-2","volume":"27","author":"A Lehnhardt","year":"2012","unstructured":"Lehnhardt A, Lama A, Amann K, et al. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatr Nephrol. 2012;27:865\u20138.","journal-title":"Pediatr Nephrol"},{"key":"574_CR9","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s00431-017-2871-6","volume":"176","author":"FA Falix","year":"2017","unstructured":"Falix FA, Bennebroek CA, van der Zwaag B, et al. A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure. Eur J Pediatr. 2017;176:15\u20139.","journal-title":"Eur J Pediatr"},{"key":"574_CR10","doi-asserted-by":"publisher","first-page":"33","DOI":"10.5414\/CN108979","volume":"87","author":"H Zhang","year":"2017","unstructured":"Zhang H, Cui J, Wang F, et al. LAMB2 mutation with different phenotypes in China. Clin Nephrol. 2017;87:33\u20138.","journal-title":"Clin Nephrol"},{"key":"574_CR11","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1038\/s10038-019-0715-0","volume":"65","author":"S Minamikawa","year":"2020","unstructured":"Minamikawa S, Miwa S, Inagaki T, et al. Molecular mechanisms determining severity in patients with Pierson syndrome. J Hum Genet. 2020;65:355\u201362.","journal-title":"J Hum Genet"},{"key":"574_CR12","doi-asserted-by":"publisher","first-page":"e907","DOI":"10.1542\/peds.2006-2164","volume":"119","author":"BG Hinkes","year":"2007","unstructured":"Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, LAMB2). Pediatrics. 2007;119:e907\u201319.","journal-title":"Pediatrics"},{"key":"574_CR13","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/s41598-019-57149-5","volume":"10","author":"C Nagano","year":"2020","unstructured":"Nagano C, Yamamura T, Horinouchi T, et al. Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep. 2020;10:270.","journal-title":"Sci Rep"},{"key":"574_CR14","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s00467-017-3838-6","volume":"34","author":"R Preston","year":"2019","unstructured":"Preston R, Stuart HM, Lennon R. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol. 2019;34:195\u2013210.","journal-title":"Pediatr Nephrol"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-021-00574-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-021-00574-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-021-00574-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T07:16:18Z","timestamp":1625814978000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-021-00574-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,21]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["574"],"URL":"https:\/\/doi.org\/10.1007\/s13730-021-00574-1","relation":{},"ISSN":["2192-4449"],"issn-type":[{"type":"electronic","value":"2192-4449"}],"subject":[],"published":{"date-parts":[[2021,1,21]]},"assertion":[{"value":"25 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2021","order":3,"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 have declared that no conflict of interest exists.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee at which the studies were conducted (IRB approval number of Kobe University School of Medicine 301) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}