{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T21:36:48Z","timestamp":1764020208053},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T00:00:00Z","timestamp":1532390400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Education, Culture, Sports, Science and Technology of Japan (JSPS KAKENHI)","award":["16K10055"],"award-info":[{"award-number":["16K10055"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent advances in high\u2010throughput sequencing for clinical genetic testing have revealed novel disease\u2010causing genes, such as <jats:italic>Crumbs homolog 2<\/jats:italic> (<jats:italic>CRB2<\/jats:italic>) for early\u2010onset steroid\u2010resistant nephrotic syndrome (SRNS). We report the long\u2010term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of <jats:italic>CRB2<\/jats:italic> (p.Arg628Cys and p.Gly839Trp located in the 10th and 11th epidermal growth factor\u2010like domains, respectively). She was initially examined during a mass urinary screening for 3.5\u2010year\u2010old children in Japan. Although she developed long\u2010standing SRNS without any extrarenal clinical signs thereafter, her renal function was well\u2010preserved over the next 17 years. In total, six sequential renal biopsy specimens revealed histologic alterations ranging from minor glomerular abnormalities to advanced focal segmental glomerulosclerosis (FSGS). A genetic analysis for SRNS performed at 19 years of age revealed a newly identified compound heterozygous mutation in <jats:italic>CRB2<\/jats:italic>. Glomerular CRB2 immunoreactivity in biopsy specimens from the patient was scanty, whereas intense expression was observed in those from patients with idiopathic FSGS or in controls. To our knowledge, this is the first report regarding a long\u2010term outcome in a case of SRNS due to an identified <jats:italic>CRB2<\/jats:italic> mutation. Although the phenotype of <jats:italic>CRB2<\/jats:italic> mutation\u2010related syndrome is now expanding, we believe that this case might provide a novel clinicopathologic aspect of this syndrome.<\/jats:p>","DOI":"10.1111\/nep.13244","type":"journal-article","created":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T11:32:37Z","timestamp":1519385557000},"page":"697-702","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Long\u2010term clinicopathologic observation in a case of steroid\u2010resistant nephrotic syndrome caused by a novel <i>Crumbs homolog 2<\/i> mutation"],"prefix":"10.1111","volume":"23","author":[{"given":"Shojiro","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hospital  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomomi","family":"Aizawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hospital  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyasu","family":"Tsukaguchi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Kansai Medical University  Hirakata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Tsugawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hospital  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazushi","family":"Tsuruga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hospital  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akemi","family":"Shono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"Joh","sequence":"additional","affiliation":[{"name":"Department of Pathology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hospital  Hirosaki Japan"},{"name":"Department of School Health Science Hirosaki University Faculty of Education  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448109"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.014"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3549-4"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.24"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12764"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3174-7"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfv355"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-017-3838-6"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.192.157"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2584-7"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-2056-x"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.13244","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.13244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T04:02:52Z","timestamp":1695009772000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.13244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1111\/nep.13244"],"URL":"https:\/\/doi.org\/10.1111\/nep.13244","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"2018-02-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication 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