{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T00:08:50Z","timestamp":1791590930279,"version":"4.3.4"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T00:00:00Z","timestamp":1698451200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T00:00:00Z","timestamp":1698451200000},"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":["CEN Case Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Paired box protein 2 (<jats:italic>PAX2<\/jats:italic>) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental glomerulosclerosis and characterized by basement membrane changes similar to Alport syndrome.<\/jats:p><jats:p>Herein, we report an 8-year-old boy who presented with proteinuria and decreased renal function. His paternal uncle has focal segmental glomerulosclerosis and renal failure, and his paternal grandmother has renal failure and is receiving peritoneal dialysis. Further, his father has stage 2 chronic kidney disease. At 3\u00a0years of age, his serum creatinine-estimated glomerular filtration rate was 40\u201350\u00a0mL\/min\/1.73 m<jats:sup>2<\/jats:sup>. At 8\u00a0years of age, his renal function further decreased and he had proteinuria (urinary protein\/Cr 3.39\u00a0g\/g Cr). Renal histopathology showed oligonephronia and focal segmental glomerulosclerosis. A partial basket-weave pattern, similar to Alport syndrome, was also observed on a transmission electron microscope, and low-vacuum scanning electron microscopy revealed coarse meshwork changes in the glomerular basement membrane. Genetic analysis revealed a <jats:italic>PAX2<\/jats:italic> heterozygous variant (NM_003987.4:c.959C\u00a0\u2009&gt;\u2009\u00a0G), a nonsense variant in which the serine at position 320 changes to a stop codon, in our patient and his father. PAX2 is a transcription factor that is important for the podocyte variant. However, podocytes with <jats:italic>PAX2<\/jats:italic> gene variants may cause abnormal basement membrane production and repair, thereby resulting in Alport-like changes.<\/jats:p>","DOI":"10.1007\/s13730-023-00830-6","type":"journal-article","created":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T08:02:15Z","timestamp":1698480135000},"page":"204-208","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant"],"prefix":"10.1007","volume":"13","author":[{"given":"Yuko","family":"Yamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Yokoyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Kitamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuo","family":"Kawaba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Okada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Horie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"China","family":"Nagano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Namba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,28]]},"reference":[{"key":"830_CR1","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1038\/ejhg.2011.102","volume":"19","author":"LA Schimmenti","year":"2011","unstructured":"Schimmenti LA. Renal coloboma syndrome. Eur J Hum Genet. 2011;19:1207\u201312.","journal-title":"Eur J Hum Genet"},{"key":"830_CR2","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1002\/humu.22020","volume":"33","author":"M Bower","year":"2012","unstructured":"Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012;33:457\u201366.","journal-title":"Hum Mutat"},{"key":"830_CR3","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1046\/j.1523-1755.2001.059002457.x","volume":"59","author":"R Salomon","year":"2001","unstructured":"Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, et al. PAX2 mutations in oligomeganephronia. Kidney Int. 2001;59:457\u201362.","journal-title":"Kidney Int"},{"key":"830_CR4","doi-asserted-by":"publisher","first-page":"1942","DOI":"10.1681\/ASN.2013070686","volume":"25","author":"M Barua","year":"2014","unstructured":"Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, et al. Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol. 2014;25:1942\u201353.","journal-title":"J Am Soc Nephrol"},{"key":"830_CR5","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1007\/s00467-012-2125-9","volume":"27","author":"H Ohtsubo","year":"2012","unstructured":"Ohtsubo H, Morisada N, Kaito H, Nagatani K, Nakanishi K, Iijima K. Alport-like glomerular basement membrane changes with renal-coloboma syndrome. Pediatr Nephrol. 2012;27:1189\u201392.","journal-title":"Pediatr Nephrol"},{"key":"830_CR6","doi-asserted-by":"publisher","first-page":"81","DOI":"10.2220\/biomedres.41.81","volume":"41","author":"H Yokoyama","year":"2020","unstructured":"Yokoyama H, Okada S, Yamada Y, Kitamoto K, Inaga S, Nakane H, et al. Low-vacuum scanning electron microscopy may allow early diagnosis of human renal transplant antibody-mediated rejection. Biomed Res. 2020;41:81\u201390.","journal-title":"Biomed Res"},{"key":"830_CR7","doi-asserted-by":"publisher","first-page":"345","DOI":"10.2220\/biomedres.35.345","volume":"35","author":"S Okada","year":"2014","unstructured":"Okada S, Inaga S, Kitamoto K, Kawaba Y, Nakane H, Naguro T, et al. Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron microscopy. Biomed Res. 2014;35:345\u201350.","journal-title":"Biomed Res"},{"key":"830_CR8","doi-asserted-by":"publisher","first-page":"502","DOI":"10.2215\/CJN.05960616","volume":"12","author":"AZ Rosenberg","year":"2017","unstructured":"Rosenberg AZ, Kopp JB. Focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2017;12:502\u201317.","journal-title":"Clin J Am Soc Nephrol"},{"key":"830_CR9","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1681\/ASN.2010121266","volume":"22","author":"MR Sutherland","year":"2011","unstructured":"Sutherland MR, Gubhaju L, Moore L, Kent AL, Dahlstrom JE, et al. Accelerated maturation and abnormal morphology in the preterm neonatal kidney. J Am Soc Nephrol. 2011;22:1365\u201374.","journal-title":"J Am Soc Nephrol"},{"key":"830_CR10","doi-asserted-by":"publisher","first-page":"585","DOI":"10.2215\/CJN.05650516","volume":"12","author":"K Koike","year":"2017","unstructured":"Koike K, Ikezumi Y, Tsuboi N, Kanzaki G, Haruhara K, et al. Glomerular density and volume in renal biopsy specimens of children with proteinuria relative to preterm birth and gestational age. Clin J Am Nephrol. 2017;12:585\u201390.","journal-title":"Clin J Am Nephrol"},{"key":"830_CR11","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1152\/physrev.00020.2002","volume":"83","author":"H Pavenst\u00e4dt","year":"2003","unstructured":"Pavenst\u00e4dt H, Kriz W, Kretzler M. Cell biology of the glomerular podocyte. Physiol Rev. 2003;83:253\u2013307.","journal-title":"Physiol Rev"},{"key":"830_CR12","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1007\/s004670050533","volume":"12","author":"MR Eccles","year":"1998","unstructured":"Eccles MR. The role of PAX2 in normal and abnormal development of the urinary tract. Pediatr Nephrol. 1998;12:712\u201320.","journal-title":"Pediatr Nephrol"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-023-00830-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-023-00830-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-023-00830-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T09:05:31Z","timestamp":1717232731000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-023-00830-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,28]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["830"],"URL":"https:\/\/doi.org\/10.1007\/s13730-023-00830-6","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,28]]},"assertion":[{"value":"6 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2023","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 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 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research involving human participants"}},{"value":"Informed consent was obtained from the patient\u2019s parents for the publication of this case report and any potentially identifying information.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}