{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T19:35:03Z","timestamp":1777750503664,"version":"3.51.4"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T00:00:00Z","timestamp":1657756800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T00:00:00Z","timestamp":1657756800000},"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 Nephrol"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant genetic disorder, and proteinuria and hematuria are the most common clinical manifestations. The pathogenesis of this disease is primarily related to mutation of the fibronectin 1 gene. Unfortunately, without specific treatment, the prognosis remains poor. Here we present a case report that investigates the clinical characteristics, renal pathology, and gene testing of childhood GFND.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A two-year-old child was brought to our hospital for \u201cpersistent hematuria for 1 year and 10 months.\u201d The disease onset was at the age of 4 months, with persistent microscopic hematuria accompanied by intermittent gross hematuria, occasionally with proteinuria, and without hypertension or renal failure. The chief complaint was intermittent gross hematuria, without massive proteinuria, hypertension, or renal failure. Family history: The child\u2019s mother had microscopic hematuria, his maternal aunt had nephrotic syndrome due to focal segmental glomerulosclerosis, and his maternal grandmother had end-stage renal disease. No significant pathological changes were found in the renal pathological biopsy of the child under a light microscope. Under the electron microscope, the basement membrane was found to be of uneven thickness, ranging from 150 to 400\u00a0nm. The stratum compactum of the basement membrane was thickened, with a small part showing tear-like and cobweb-like morphology. No electron-dense deposits were found. The renal tubular epithelial cells were vacuolated, and there were no unique pathological changes in the renal interstitium. Immunofluorescence showed that IgG, IgM, IgA, C3, and C1q were all negative. Alport syndrome was preliminarily considered. However, exome sequencing revealed a mutated site in the fibronectin 1 gene. The child\u2019s mother was the carrier of the pathogenic gene and the final diagnosis was GFND.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Fibronectin deposition is a typical pathological change in GFND, and the disease progresses slowly to end-stage renal disease. There is no specific treatment so far, and the prognosis is poor. The early onset of childhood patients may not show typical renal pathological changes, but only changes in the thickness of basement membrane, etc. Genome sequencing technology may helpful for the early diagnosis of GFND.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12882-022-02872-x","type":"journal-article","created":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T13:03:50Z","timestamp":1657803830000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy"],"prefix":"10.1186","volume":"23","author":[{"given":"Xiao-qing","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1964-1284","authenticated-orcid":false,"given":"Tong","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,14]]},"reference":[{"key":"2872_CR1","first-page":"726","volume":"111","author":"SE Tuttle","year":"1987","unstructured":"Tuttle SE, Sharma HM, Bay W, Herbert L. A unique familial lobular glomerulopathy. Arch Pathol Lab Med. 1987;111:726\u201331.","journal-title":"Arch Pathol Lab Med"},{"key":"2872_CR2","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1038\/ki.1995.280","volume":"48","author":"EH Strom","year":"1995","unstructured":"Strom EH, Banfi G, Krapf R, Abt AB, Mazzucco G, Monga G, et al. Glomerulopathy associated with predominant fibronectin deposits: a newly recognized genetic disease. Kidney Int. 1995;48:163\u201370.","journal-title":"Kidney Int"},{"key":"2872_CR3","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1007\/s00467-016-3368-7","volume":"31","author":"H Ohtsubo","year":"2016","unstructured":"Ohtsubo H, Okada T, Nozu K, Takaoka Y, Shono A, Asanuma K, et al. Identification of mutation in FN1 leading to glomerulopathy with fibronectin deposits. Pediatr Nephrol. 2016;31:1459\u201367.","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"2872_CR4","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1186\/s12882-019-1507-7","volume":"20","author":"MLG Dos Reis Monteiro","year":"2019","unstructured":"Dos Reis Monteiro MLG, Cust\u00f3dio FB, de Menezes Neves PDM, et al. A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family. BMC Nephrol. 2019;20(1):322. https:\/\/doi.org\/10.1186\/s12882-019-1507-7.","journal-title":"BMC Nephrol"},{"key":"2872_CR5","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1136\/jmg.34.4.326","volume":"34","author":"F Flinter","year":"1997","unstructured":"Flinter F. Alport\u2019s syndrome. J Med Genet. 1997;34:326\u201330.","journal-title":"J Med Genet"},{"key":"2872_CR6","first-page":"425","volume":"10","author":"H Chen","year":"2011","unstructured":"Chen H, Zeng H, Zhu X, et al. Fibronectin glomerulopathy: Clinical and morphological features. J Nephrol Dialy Transplant. 2011;10:425\u201331.","journal-title":"J Nephrol Dialy Transplant"},{"key":"2872_CR7","doi-asserted-by":"publisher","first-page":"93","DOI":"10.5414\/CN108288","volume":"83","author":"H Chen","year":"2015","unstructured":"Chen H, Bao H, Xu F, Zhu X, Zhu M, He Q, et al. Clinical and morphological features of fibronectin glomerulopathy: a report of ten patients from a single institution. Clin Nephrol. 2015;83:93\u20139.","journal-title":"Clin Nephrol"},{"key":"2872_CR8","first-page":"1715","volume":"52","author":"M Yoshino","year":"2013","unstructured":"Yoshino M, Miura N, Ohnishi T, Suzuki K, Kitagawa W, Nishikawa K, et al. Clinicopathological analysis of glomerulopathy with fibronectin deposits (GFND): a case of sporadic, elderly-onset GFND with code position of IgA, C1q, and fibrinogen. Inern Med. 2013;52:1715\u201320.","journal-title":"Inern Med"},{"key":"2872_CR9","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1007\/s00467-002-0833-2","volume":"17","author":"K Niimi","year":"2002","unstructured":"Niimi K, Tsuru N, Uesugi N, Takebayashi S. Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male. Pediatr Nephrol. 2002;17:363\u20136.","journal-title":"Pediatr Nephrol"},{"key":"2872_CR10","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.nefro.2016.09.015","volume":"37","author":"G Cheng","year":"2017","unstructured":"Cheng G, Wang Z, Yuan W, Dou Y, Liu D, Xiao J, et al. Fibronectin glomerulopathy in an 88-year-old male with acute kidney injury on chronic kidney disease: a case report and a review of the literature. Nefrologia. 2017;37:93\u20136.","journal-title":"Nefrologia"},{"key":"2872_CR11","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1111\/j.1399-0012.2012.01644.x","volume":"26","author":"Y Otsuka","year":"2012","unstructured":"Otsuka Y, Takeda A, Hofike K, Inaguma D, Goto N, Watarai Y, et al. A recurrent fibronectin glomerulopathy in a renal transplant patient: a case report. Clin Transplant. 2012;26:58\u201363.","journal-title":"Clin Transplant"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-022-02872-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-022-02872-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-022-02872-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T13:06:27Z","timestamp":1657803987000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-022-02872-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,14]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["2872"],"URL":"https:\/\/doi.org\/10.1186\/s12882-022-02872-x","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,14]]},"assertion":[{"value":"24 December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 July 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":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent: Informed consent was obtained from all individual participants included in the study.The patient\u2019s family provided written informed consent prior to investigation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written consent was obtained from the patient\u2019s family for publication of this case report and any accompanying data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Competing interests"}}],"article-number":"250"}}