{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:14:33Z","timestamp":1753892073531,"version":"3.41.2"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T00:00:00Z","timestamp":1750377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, <jats:italic>NPHP1<\/jats:italic>, are frequently associated with the disease. Here, we describe the case of a child who presented to the clinic with febrile convulsions and who was ultimately diagnosed with nephronophthisis caused by a homozygous deletion of the <jats:italic>NPHP1<\/jats:italic> gene. Alerting pediatricians to the recognition of atypical renal wasting disease and reclarifying the diagnostic value of genetic diagnosis for this disease.<\/jats:p>","DOI":"10.3389\/fped.2025.1541411","type":"journal-article","created":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T05:22:34Z","timestamp":1750396954000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1"],"prefix":"10.3389","volume":"13","author":[{"given":"Ting","family":"Dong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiajia","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianhong","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,6,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1080\/17843286.2019.1655231","article-title":"Copy-number variation of the NPHP1 gene in patients with juvenile nephronophthisis","volume":"76","author":"Abdelwahed","year":"2021","journal-title":"Acta Clin Belg"},{"key":"B2","doi-asserted-by":"publisher","first-page":"287","DOI":"10.3389\/fped.2017.00287","article-title":"Many genes\u2014one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders","volume":"5","author":"Srivastava","year":"2018","journal-title":"Front Pediatr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"615","DOI":"10.2215\/CJN.11890720","article-title":"Nephronophthisis in young adults phenocopying thrombotic microangiopathy and severe nephrosclerosis","volume":"16","author":"Doreille","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1762","DOI":"10.3390\/genes12111762","article-title":"Nephronophthisis-pathobiology and molecular pathogenesis of a rare kidney genetic disease","volume":"12","author":"Gupta","year":"2021","journal-title":"Genes (Basel)"},{"key":"B5","doi-asserted-by":"publisher","first-page":"507","DOI":"10.2215\/CJN.11260821","article-title":"Effects of hydrochlorothiazide and metformin on aquaresis and nephroprotection by a vasopressin V2 receptor antagonist in ADPKD: a randomized crossover trial","volume":"17","author":"Kramers","year":"2022","journal-title":"Clin J Am Soc Nephrol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"463","DOI":"10.3969\/j.issn.1006-298X.2024.05.012","article-title":"Advances in molecular genetics and pathophysiology of nephronophthisis","volume":"33","author":"Huiying","year":"2024","journal-title":"J Nephrol Dialy Transplant"},{"key":"B7","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1186\/s12887-024-04872-2","article-title":"Case report of a child with nephronophthisis from South Africa","volume":"24","author":"Bhimma","year":"2024","journal-title":"BMC Pediatr"},{"key":"B8","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.ajhg.2016.12.011","article-title":"Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis","volume":"100","author":"Macia","year":"2017","journal-title":"Am J Hum Genet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"108","DOI":"10.6040\/j.issn.1671-7554.0.2023.1143","article-title":"Clinical characterization and genetic analysis of a family line with renal wasting disease caused by a pure deletion of NPHP1 gene","volume":"62","author":"Lifei","year":"2024","journal-title":"J Shandong Univ (Health Sci)"},{"key":"B10","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1053\/j.ajkd.2020.08.012","article-title":"Ciliopathies and the kidney: a review","volume":"77","author":"McConnachie","year":"2021","journal-title":"Am J Kidney Dis"},{"key":"B11","doi-asserted-by":"publisher","first-page":"352","DOI":"10.3969\/j.issn.1671-2390.2025.04.012","article-title":"Juvenile nephronophthisis type I: a case report and literature review","volume":"25","author":"Chan","year":"2025","journal-title":"J Clin Nephrol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"394","DOI":"10.3969\/cndt.j.issn.1006-298X.2016.04.020","article-title":"Hyposthenuria,corticomedullary border cysts and renal dysfunction","volume":"25","author":"Yuchao","year":"2016","journal-title":"J Nephrol Dialy Transplant"},{"key":"B13","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1186\/s12881-020-01025-x","article-title":"A case report of NPHP1 deletion in Chinese twins with nephronophthisis","volume":"21","author":"Chen","year":"2020","journal-title":"BMC Med Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1541411\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T05:22:37Z","timestamp":1750396957000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1541411\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,20]]},"references-count":13,"alternative-id":["10.3389\/fped.2025.1541411"],"URL":"https:\/\/doi.org\/10.3389\/fped.2025.1541411","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2025,6,20]]},"article-number":"1541411"}}