{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T08:04:29Z","timestamp":1774598669486,"version":"3.50.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms\u2019 tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 gene and presenting a new type of pathology, have never been reported.We also systematically review previous reports of ISRNS in Chinese children.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 8-year-old Chinese patient who had steroid-resistant nephrotic syndrome,responded poorly to immunosuppressant, and had no extrarenal manifestations. The patient had a female phenotype and karyotype of 46, XX. A new type of renal pathology, proliferative sclerosing glomerulonephritis (PSG),and a de novo missense mutation in WT1 gene, c.748C\u2009&gt;\u2009T (p.R250W),which have not yet been reported, were identified. She was diagnosed with ISRNS.The patient progressed to end-stage renal disease at the age of 10\u00a0years,underwent dialysis and kidney transplant. Renal function and urine protein were normal during 4-year follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>WT1 gene testing should be performed to guide treatment for patients with steroid-resistant nephrotic syndrome, especially for isolated cases and female patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-022-03358-3","type":"journal-article","created":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T13:05:52Z","timestamp":1655384752000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review"],"prefix":"10.1186","volume":"22","author":[{"given":"Yiyang","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yajun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoda","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riling","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,16]]},"reference":[{"issue":"11","key":"3358_CR1","first-page":"862","volume":"26","author":"Z Hongwen","year":"2011","unstructured":"Hongwen Z, Wang F, Ding J. Research progress of cyclosporine A in the treatment of hereditary nephrotic syndrome caused by WT1 gene mutation. Chin J Pract Pediatr. 2011;26(11):862\u20134.","journal-title":"Chin J Pract Pediatr"},{"issue":"10","key":"3358_CR2","first-page":"769","volume":"56","author":"LZ Sun","year":"2018","unstructured":"Sun LZ, Wang HY, Li M, et al. Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy. Zhonghua Er Ke Za Zhi. 2018;56(10):769\u201374.","journal-title":"Zhonghua Er Ke Za Zhi"},{"issue":"3","key":"3358_CR3","first-page":"233","volume":"47","author":"W Jingjing","year":"2009","unstructured":"Jingjing W, Liyan Ye, Huayu Zi. Kidney disease and WT1 gene. Chin J Pediatr. 2009;47(3):233\u20137.","journal-title":"Chin J Pediatr"},{"issue":"05","key":"3358_CR4","doi-asserted-by":"publisher","first-page":"245","DOI":"10.5414\/CN108948","volume":"87","author":"Z Yue","year":"2017","unstructured":"Yue Z, Wang H, Lin H, et al. WT1 mutation-associated nephropathy: a single-center experience. Clin Nephrol. 2017;87(05):245\u201354.","journal-title":"Clin Nephrol"},{"issue":"11","key":"3358_CR5","first-page":"2621","volume":"33","author":"W Lijun","year":"2018","unstructured":"Lijun W, Jianguo Li. Research progress on molecular genetic mechanism of corticosteroid resistant nephrotic syndrome in children. Chin Matern Child Health. 2018;33(11):2621\u20135.","journal-title":"Chin Matern Child Health"},{"issue":"1","key":"3358_CR6","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s00467-016-3395-4","volume":"32","author":"YH Ahn","year":"2017","unstructured":"Ahn YH, Park EJ, Kang HG, et al. Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. 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Development. 2017;144(16):2862\u201372.","journal-title":"Development"},{"issue":"7","key":"3358_CR9","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1007\/s00467-010-1468-3","volume":"25","author":"J Gellermann","year":"2010","unstructured":"Gellermann J, Stefanidis CJ, Mitsioni A, et al. Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. Pediatr Nephrol. 2010;25(7):1285\u20139.","journal-title":"Pediatr Nephrol"},{"key":"3358_CR10","unstructured":"Yang Yonghui.\u00a0Analysis of WT1 gene mutation in Chinese children with corticosteroid resistant nephrotic syndrome.\u00a0Graduate Thesis of Fujian Medical University, 2012,"},{"issue":"2","key":"3358_CR11","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1203\/PDR.0b013e3181e4c9e3","volume":"68","author":"J Li","year":"2010","unstructured":"Li J, Ding J, Zhao D, et al. WT1 gene mutations in chinese children with early onset nephrotic syndrome. 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Cell. 1991;67(2):437\u201347.","journal-title":"Cell"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-022-03358-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-022-03358-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-022-03358-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T13:11:33Z","timestamp":1655385093000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-022-03358-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,16]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3358"],"URL":"https:\/\/doi.org\/10.1186\/s12887-022-03358-3","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,16]]},"assertion":[{"value":"25 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 May 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The studies involving human participants were reviewed and approved by Affiliated Hospital of Guangdong Medical University. The patients provided their written informed consent to participate in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish was obtained from the patient\u2019s parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}],"article-number":"349"}}