{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T18:27:58Z","timestamp":1754159278801,"version":"3.41.2"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:00:00Z","timestamp":1742256000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:00:00Z","timestamp":1742256000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006451","name":"Hospices Civils de Lyon","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006451","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>We report here the case of a 16-year-old girl with chronic kidney disease, where biopsy revealed tubulointerstitial nephropathy with granulomas. Initial treatments included immunosuppressive therapy unless genetic testing with exome sequencing identified nephronophthisis due to a homozygous deletion of the <jats:italic>NPHP1<\/jats:italic> gene, marking a unique instance of granulomatous nephropathy related to nephronophthisis. With severe kidney damage, her function has not recovered, necessitating peritoneal dialysis and transplantation. This case highlights the need to consider nephronophthisis in inflammatory interstitial and granulomatous nephropathy, especially when it appears severe and early in life. In addition, it underscores the importance of genetic testing for accurate diagnosis and management in pediatric nephropathies.<\/jats:p>","DOI":"10.1007\/s00467-025-06741-1","type":"journal-article","created":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T12:24:29Z","timestamp":1742300669000},"page":"2807-2810","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Granulomatous nephropathy: have you thought about genetics?"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6434-704X","authenticated-orcid":false,"given":"Enzo","family":"Vedrine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Bessenay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Philipponnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marine","family":"Dancer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelia","family":"Bertholet-Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,18]]},"reference":[{"key":"6741_CR1","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1093\/ndt\/gfac219","volume":"38","author":"S Mehta","year":"2023","unstructured":"Mehta S, Lightle A, Judson MA (2023) Renal sarcoidosis. Nephrol Dial Transplant 38:803\u2013810. https:\/\/doi.org\/10.1093\/ndt\/gfac219","journal-title":"Nephrol Dial Transplant"},{"key":"6741_CR2","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1053\/j.ajkd.2020.08.012","volume":"77","author":"DJ McConnachie","year":"2021","unstructured":"McConnachie DJ, Stow JL, Mallett AJ (2021) Ciliopathies and the kidney: a review. Am J Kidney Dis 77:410\u2013419. https:\/\/doi.org\/10.1053\/j.ajkd.2020.08.012","journal-title":"Am J Kidney Dis"},{"key":"6741_CR3","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1016\/j.kint.2023.05.007","volume":"104","author":"F Petzold","year":"2023","unstructured":"Petzold F, Billot K, Chen X et al (2023) The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney Int 104:378\u2013387. https:\/\/doi.org\/10.1016\/j.kint.2023.05.007","journal-title":"Kidney Int"},{"key":"6741_CR4","doi-asserted-by":"publisher","first-page":"2121","DOI":"10.1093\/hmg\/ddac014","volume":"31","author":"M Quatredeniers","year":"2022","unstructured":"Quatredeniers M, Bienaim\u00e9 F, Ferri G et al (2022) The renal inflammatory network of nephronophthisis. Hum Mol Genet 31:2121\u20132136. https:\/\/doi.org\/10.1093\/hmg\/ddac014","journal-title":"Hum Mol Genet"},{"key":"6741_CR5","doi-asserted-by":"publisher","unstructured":"(2022) Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference. Kidney Int 101:1126\u20131141. https:\/\/doi.org\/10.1016\/j.kint.2022.03.019","DOI":"10.1016\/j.kint.2022.03.019"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06741-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-025-06741-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06741-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T06:05:41Z","timestamp":1753423541000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-025-06741-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,18]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["6741"],"URL":"https:\/\/doi.org\/10.1007\/s00467-025-06741-1","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2025,3,18]]},"assertion":[{"value":"28 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 March 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 March 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 March 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}