{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:57:54Z","timestamp":1793383074584,"version":"4.5.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T00:00:00Z","timestamp":1781222400000},"content-version":"vor","delay-in-days":162,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100019890","name":"University of Miyazaki Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Nephrology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    We herein report the case of a 2\u2010year\u2010old girl with novel compound heterozygous\n                    <jats:italic>NPHS1<\/jats:italic>\n                    variants, p.R460Q (a known loss\u2010of\u2010function mutation) and p.V822M (a rare variant with reported pathogenicity and relatively mild functional effects). She initially presented with typical features of idiopathic nephrotic syndrome and achieved complete remission on Day 10 of corticosteroid therapy. After tapering, the patient developed recurrent episodes of infection\u2010associated heavy proteinuria, which often remitted spontaneously but sometimes left residual low\u2010grade proteinuria. Despite the introduction of cyclosporine, these episodes continued, and the effect of immunosuppression remained unclear. Over a 4\u2010year follow\u2010up, recurrent transient proteinuria persisted, but no relapse of nephrotic syndrome or renal dysfunction was observed. This atypical clinical pattern, characterized by incomplete remissions and limited response to immunosuppressive therapy, prompted genetic testing, which revealed compound heterozygous\n                    <jats:italic>NPHS1<\/jats:italic>\n                    variants. This case expands the phenotypic spectrum of\n                    <jats:italic>NPHS1<\/jats:italic>\n                    \u2010associated disease, thus highlighting that nephrin variants may manifest as steroid responsiveness, preserved renal function, and repeated transient proteinuria. Our findings emphasize the role of genetic testing in clarifying diagnosis and guiding management in steroid\u2010sensitive nephrotic syndrome with atypical features.\n                  <\/jats:p>","DOI":"10.1155\/crin\/4258555","type":"journal-article","created":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T05:44:40Z","timestamp":1781329480000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel NPHS1\u2010Associated Phenotype Characterized by Recurrent Transient Proteinuria"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3336-4260","authenticated-orcid":false,"given":"Etsuko","family":"Tanaka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Konomoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Sakaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Kurogi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nana","family":"Sakakibara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5471-7646","authenticated-orcid":false,"given":"Hiroshi","family":"Moritake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,12]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(00)80057-x"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.010"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1111"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5002110"},{"key":"e_1_2_10_5_2","doi-asserted-by":"crossref","first-page":"2943","DOI":"10.1093\/hmg\/ddp232","article-title":"Predisposition to Relapsing Nephrotic Syndrome by a Nephrin Mutation That Interferes with Assembly of Functioning Microdomains","volume":"18","author":"Shono A.","year":"2009","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2020.05.029"}],"container-title":["Case Reports in Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crin\/4258555","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crin\/4258555","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crin\/4258555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T05:44:42Z","timestamp":1781329482000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crin\/4258555"}},"subtitle":[],"editor":[{"given":"Poorani","family":"Gurumallesh Prabu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crin\/4258555"],"URL":"https:\/\/doi.org\/10.1155\/crin\/4258555","archive":["Portico"],"relation":{},"ISSN":["2090-6641","2090-665X"],"issn-type":[{"value":"2090-6641","type":"print"},{"value":"2090-665X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-09-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"4258555"}}