{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T19:38:15Z","timestamp":1770320295614,"version":"3.49.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100010391","name":"Tokyo Women's Medical University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010391","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by renal tubular and interstitial abnormalities and slow progressive loss of kidney function. Patients with ADTKD rarely progress to kidney failure in early childhood. A 7-year-old Japanese girl was admitted to the hospital due to afebrile seizures and was later diagnosed with Panayiotopoulos syndrome. Blood examinations showed that she had a serum creatinine level of 1.57\u00a0mg\/dL (Cr-eGFR 28 mL\/min\/1.73\u00a0m\u00b2), consistent with chronic kidney disease stage 4. Ultrasonography showed bilateral small to normal-sized kidneys, with increased renal parenchymal echogenicity, poor corticomedullary differentiation, and small cysts. A panel exome sequencing targeting 187 genes identified a de novo pathogenic variant c.172G\u2009&gt;\u2009T, p.Gly58Cys in the EGF-like domain 1 of the\n                    <jats:italic>UMOD<\/jats:italic>\n                    gene. Her parents did not possess this variant, leading to the diagnosis of a sporadic case of ADTKD-\n                    <jats:italic>UMOD<\/jats:italic>\n                    . Variants in the EGF-like domain 1 may lead to early progression to kidney failure. ADTKD-\n                    <jats:italic>UMOD<\/jats:italic>\n                    should be listed as a differential diagnosis of progressive kidney failure in early childhood, even in the absence of a family history.\n                  <\/jats:p>","DOI":"10.1007\/s13730-025-01081-3","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T06:27:45Z","timestamp":1770272865000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant"],"prefix":"10.1007","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9475-8327","authenticated-orcid":false,"given":"Shinya","family":"Tomori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9483-8482","authenticated-orcid":false,"given":"Kenichiro","family":"Miura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3734-4766","authenticated-orcid":false,"given":"Yoko","family":"Shirai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taeko","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Hada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Kurayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Morisada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-9674","authenticated-orcid":false,"given":"Motoshi","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,2,5]]},"reference":[{"key":"1081_CR1","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1007\/s00467-021-05118-4","volume":"37","author":"AJ Bleyer","year":"2022","unstructured":"Bleyer AJ, Wolf MT, Kidd KO, Zivna M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1beta. Pediatr Nephrol. 2022;37:933\u201346.","journal-title":"Pediatr Nephrol"},{"key":"1081_CR2","doi-asserted-by":"crossref","unstructured":"Tanaka Y, Nagano C, Sakakibara N, Okada E, Aoyama S, Kimura Y et al. Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort. Clin Exp Nephrol. 2025; 788\u2009\u2013\u200996.","DOI":"10.1007\/s10157-025-02629-4"},{"key":"1081_CR3","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/j.kint.2020.04.038","volume":"98","author":"E Olinger","year":"2020","unstructured":"Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, et al. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int. 2020;98:717\u201331.","journal-title":"Kidney Int"},{"key":"1081_CR4","doi-asserted-by":"publisher","first-page":"1985","DOI":"10.1093\/hmg\/ddq077","volume":"19","author":"F Zaucke","year":"2010","unstructured":"Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary Uromodulin expression. Hum Mol Genet. 2010;19:1985\u201397.","journal-title":"Hum Mol Genet"},{"key":"1081_CR5","doi-asserted-by":"publisher","first-page":"151","DOI":"10.5414\/CN109128","volume":"92","author":"NS Carucci","year":"2019","unstructured":"Carucci NS, Caridi G, Lugani F, Barone C, Conti G. A novel UMOD gene mutation associated with chronic kidney failure at a young age. Clin Nephrol. 2019;92:151\u20135.","journal-title":"Clin Nephrol"},{"key":"1081_CR6","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/ki.2015.28","volume":"88","author":"KU Eckardt","year":"2015","unstructured":"Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management\u2013A KDIGO consensus report. Kidney Int. 2015;88:676\u201383.","journal-title":"Kidney Int"},{"key":"1081_CR7","doi-asserted-by":"publisher","first-page":"2429","DOI":"10.2215\/CJN.01220211","volume":"6","author":"G Bollee","year":"2011","unstructured":"Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol. 2011;6:2429\u201338.","journal-title":"Clin J Am Soc Nephrol"},{"key":"1081_CR8","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1038\/ki.2011.134","volume":"80","author":"L Rampoldi","year":"2011","unstructured":"Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of Uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011;80:338\u201347.","journal-title":"Kidney Int"},{"key":"1081_CR9","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.2215\/CJN.11151012","volume":"8","author":"JL Moskowitz","year":"2013","unstructured":"Moskowitz JL, Piret SE, Lhotta K, Kitzler TM, Tashman AP, Velez E, et al. Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol. 2013;8:1349\u201357.","journal-title":"Clin J Am Soc Nephrol"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01081-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-025-01081-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01081-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T06:27:47Z","timestamp":1770272867000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-025-01081-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,5]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["1081"],"URL":"https:\/\/doi.org\/10.1007\/s13730-025-01081-3","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,5]]},"assertion":[{"value":"14 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All the authors have declared no competing interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"46"}}