{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T04:04:27Z","timestamp":1779681867931,"version":"3.53.1"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Emerging evidence suggests that the overall prevalence of nephronophthisis (NPHP) in adult\u2010onset end\u2010stage kidney disease (ESKD) is very likely underestimated. Thus, a comprehensive understanding of the genetic basis and clinicopathologic features of adult\u2010onset NPHP is essential. In this case, we report a 38\u2010year\u2010old woman who exhibited no growth disorders or urinary abnormalities in prior physical examinations. However, at 38\u2009years of age, she presented with renal dysfunction (eGFR 29.5\u2009mL\/min\/1.73\u2009m\n                    <jats:sup>2<\/jats:sup>\n                    ). Urine tests revealed a low specific gravity of urine, but no proteinuria or microscopic hematuria, while urinary (\u03b11\u2010MG) was elevated (137\u2009mg\/L). Extrarenal phenotypes were absent. For a definitive diagnosis, a renal biopsy was conducted. Light microscopic findings showed established irregular microcystic dilatation in the tubules, irregular focal lamellation of the tubular basement membrane and moderate fibrosis in the interstitial area. Genetic analysis identified biallelic\n                    <jats:italic>NPHP3<\/jats:italic>\n                    variants in trans: c.1047C&gt;A (p.Tyr349Ter) non\u2010sense variant and c.3725A&gt;G (p.Tyr1242Cys) missense variant., leading to a definitive diagnosis of NPHP. This case highlights\n                    <jats:italic>NPHP3<\/jats:italic>\n                    as an appreciable genetic cause for adult\u2010onset nonsyndromic NPHP. Further studies are required to clarify the genotype\u2013phenotype correlations of NPHP in adults.\n                  <\/jats:p>","DOI":"10.1111\/nep.70226","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T10:50:28Z","timestamp":1779447028000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic\n                    <i>NPHP3<\/i>\n                    Variants Causing Late Onset Chronic Kidney Insufficiency in Nephronophthisis: A Case Report"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-1223","authenticated-orcid":false,"given":"Yu","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Nephrology Beijing Tiantan Hospital Affiliated to Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengshi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nephrology Beijing Tiantan Hospital Affiliated to Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7215-707X","authenticated-orcid":false,"given":"Xujie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Nephrology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-7509","authenticated-orcid":false,"given":"Yilun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Nephrology Beijing Tiantan Hospital Affiliated to Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2022.05.035"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000194"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302705"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2021.02.005"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/nep.12563"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.662"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017111200"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2019.08.031"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1297-0"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01280217"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1216"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20669"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2007020243"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.017"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2039"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/cm.20428"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70226","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70226","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T03:28:50Z","timestamp":1779679730000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1111\/nep.70226"],"URL":"https:\/\/doi.org\/10.1111\/nep.70226","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"2026-02-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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