{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T10:34:30Z","timestamp":1774866870449,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>X\u2010linked hypophosphataemia (XLH, MIM#307800) is an inherited form of rickets resulting from mutations in the phosphate\u2010regulating neutral endopeptidase (<jats:italic>PHEX<\/jats:italic>) gene on the X chromosome. These mutations lead to elevated circulating fibroblast growth factor 23 (FGF23), which disrupts phosphate homeostasis and contributes to XLH pathogenesis. We present a sporadic case of a 41\u2010year\u2010old woman diagnosed with rickets in childhood who later developed persistent proteinuria. Kidney biopsy revealed segmental sclerosis with a perihilar lesion in one of 19 glomeruli, along with dilated proximal tubules, reduced expression of the sodium\u2010dependent phosphate transporters (NaPi\u2010IIa and NaPi\u2010IIc) and lysosomal particle accumulation in proximal tubule epithelial cells. Next\u2010generation sequencing identified a novel heterozygous missense mutation in <jats:italic>PHEX<\/jats:italic> (<jats:italic>c.2179T&gt;A; p.Phe727Ile<\/jats:italic>), which, to our knowledge, has not been previously reported. Detailed kidney biopsy findings in XLH are rare. This case report provides novel insights into XLH pathophysiology, highlighting kidney\u2010specific pathological changes and reinforcing the importance of genetic testing for precise diagnosis and management.<\/jats:p>","DOI":"10.1111\/nep.70104","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T22:59:58Z","timestamp":1754434798000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel <scp><i>PHEX<\/i><\/scp> Mutation in X\u2010Linked Hypophosphataemic Rickets With Reduced Expression of <scp>NaPi<\/scp>\u2010<scp>IIa<\/scp> and <scp>NaPi<\/scp>\u2010<scp>IIc<\/scp> in the Proximal Tubules: A Case Report"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9470-476X","authenticated-orcid":false,"given":"Masahiro","family":"Muto","sequence":"first","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0513-4433","authenticated-orcid":false,"given":"Tomohito","family":"Gohda","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyuki","family":"Takagi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Kihara","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harumi","family":"Saeki","sequence":"additional","affiliation":[{"name":"Department of Human Pathology Faculty of Medicine, Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Nephrology Institute of Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eisei","family":"Sohara","sequence":"additional","affiliation":[{"name":"Department of Nephrology Institute of Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Uchida","sequence":"additional","affiliation":[{"name":"Department of Nephrology Institute of Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichiro","family":"Yamashiro","sequence":"additional","affiliation":[{"name":"Probiotics Research Laboratory Juntendo University Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-130"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0631-z"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj20030287"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.218"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.04.082"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-016-1252-1"},{"key":"e_1_2_10_8_1","unstructured":"National Center for Biotechnology Information \u201cClin Var. 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