{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:07:04Z","timestamp":1789200424133,"version":"build-2803163510"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"DOI":"10.1007\/s00467-026-07519-9","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T07:50:14Z","timestamp":1789199414000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6631-1660","authenticated-orcid":false,"given":"Badria","family":"Al Ghaithi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samiya","family":"Al Hashmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intisar","family":"Al Alawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Al-Omairi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwaq","family":"Al Maimani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainb","family":"Al Hashmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naima","family":"Al Alawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naifain","family":"Al Kalbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anisa","family":"Al Maskari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suliman","family":"Al Saidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al Riyami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,12]]},"reference":[{"key":"7519_CR1","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, Deltas C et al (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management\u2014a KDIGO consensus report. Kidney Int 88:676\u2013683","journal-title":"Kidney Int"},{"key":"7519_CR2","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/s41572-019-0109-9","volume":"5","author":"O Devuyst","year":"2019","unstructured":"Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ (2019) Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers 5:60","journal-title":"Nat Rev Dis Primers"},{"key":"7519_CR3","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 (2022) Autosomal dominant tubulointerstitial kidney disease: more than just HNF1\u03b2. Pediatr Nephrol 37:933\u2013946","journal-title":"Pediatr Nephrol"},{"key":"7519_CR4","unstructured":"Shamam YM, Hashmi MF (2023) Autosomal dominant tubulointerstitial kidney disease. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL). Available via https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK568710\/"},{"key":"7519_CR5","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1016\/j.kint.2020.06.041","volume":"98","author":"M \u017divn\u00e1","year":"2020","unstructured":"\u017divn\u00e1 M, Kidd K, Zaidan M, Vyle\u0165al P, Bare\u0161ov\u00e1 V, Hoda\u0148ov\u00e1 K, Sovov\u00e1 J et al (2020) An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int 98:1589\u20131604","journal-title":"Kidney Int"},{"key":"7519_CR6","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1016\/j.nefroe.2024.08.002","volume":"44","author":"F Goncalves","year":"2024","unstructured":"Goncalves F, Lisboa-Goncalves P, Quental R, Fernandes S, Quental S, Michel-Calemard L et al (2024) Familial juvenile hyperuricemic nephropathy: revisiting the SLC8A1 gene in a family with a novel terminal gross deletion in UMOD. Nefrolog\u00eda (Engl Ed) 44:576\u2013581","journal-title":"Nefrolog\u00eda (Engl Ed)"},{"key":"7519_CR7","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1002\/ajmg.c.32008","volume":"190","author":"M \u017divn\u00e1","year":"2022","unstructured":"\u017divn\u00e1 M, Kidd KO, Bare\u0161ov\u00e1 V, H\u016flkov\u00e1 H, Kmoch S, Bleyer AJ (2022) Autosomal dominant tubulointerstitial kidney disease: a review. Am J Med Genet C Semin Med Genet 190:309\u2013324","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"7519_CR8","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 (2020) Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int 98:717\u2013731","journal-title":"Kidney Int"},{"key":"7519_CR9","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1053\/j.ajkd.2018.03.019","volume":"72","author":"N Ayasreh","year":"2018","unstructured":"Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L et al (2018) Autosomal dominant tubulointerstitial kidney disease: clinical presentation of patients with ADTKD-UMOD and ADTKD-MUC1. Am J Kidney Dis 72:411\u2013418","journal-title":"Am J Kidney Dis"},{"key":"7519_CR10","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1093\/ndt\/gfab268","volume":"38","author":"H Mabillard","year":"2023","unstructured":"Mabillard H, Sayer JA, Olinger E (2023) Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant 38:271\u2013282","journal-title":"Nephrol Dial Transplant"},{"key":"7519_CR11","doi-asserted-by":"publisher","first-page":"3615","DOI":"10.1038\/s41598-020-79331-w","volume":"11","author":"K Gong","year":"2021","unstructured":"Gong K, Xia M, Wang Y, Wang N, Liu Y, Zhang VW et al (2021) Autosomal dominant tubulointerstitial kidney disease genotype\u2013phenotype correlation in a Chinese cohort. Sci Rep 11:3615","journal-title":"Sci Rep"},{"key":"7519_CR12","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-48014-6","volume":"9","author":"C Schaeffer","year":"2019","unstructured":"Schaeffer C, Izzi C, Vettori A, Pasqualetto E, Cittaro D, Lazarevic D et al (2019) Autosomal dominant tubulointerstitial kidney disease with adult onset due to a novel renin mutation mapping in the mature protein. Sci Rep 9:11601","journal-title":"Sci Rep"},{"key":"7519_CR13","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1186\/s12882-017-0631-5","volume":"18","author":"RL Clissold","year":"2017","unstructured":"Clissold RL, Clarke HC, Spasic-Boskovic O, Brugger K, Abbs S, Bingham C et al (2017) Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. BMC Nephrol 18:234","journal-title":"BMC Nephrol"},{"key":"7519_CR14","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1053\/j.ajkd.2011.06.029","volume":"58","author":"BB Beck","year":"2011","unstructured":"Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A et al (2011) Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Am J Kidney Dis 58:821\u2013825","journal-title":"Am J Kidney Dis"},{"key":"7519_CR15","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.ajhg.2016.05.028","volume":"99","author":"NA Bolar","year":"2016","unstructured":"Bolar NA, Golzio C, \u017divn\u00e1 M, Hayot G, Van Hemelrijk C, Schepers D et al (2016) Heterozygous loss-of-function SEC61A1 mutations cause autosomal dominant tubulointerstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet 99:174\u2013187","journal-title":"Am J Hum Genet"},{"key":"7519_CR16","doi-asserted-by":"publisher","first-page":"364.e1","DOI":"10.1016\/j.ajog.2010.05.022","volume":"203","author":"RA Oram","year":"2010","unstructured":"Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I et al (2010) Mutations in the hepatocyte nuclear factor-1\u03b2 (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 203:364.e1-3645","journal-title":"Am J Obstet Gynecol"},{"key":"7519_CR17","doi-asserted-by":"publisher","first-page":"2514","DOI":"10.1016\/j.ekir.2024.05.007","volume":"9","author":"B Buffin-Meyer","year":"2024","unstructured":"Buffin-Meyer B, Richard J, Guigonis V, Weber S, Konig J, Heidet L et al (2024) Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions. Kidney Int Rep 9:2514\u20132526","journal-title":"Kidney Int Rep"},{"key":"7519_CR18","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.2215\/CJN.06810909","volume":"5","author":"L Heidet","year":"2010","unstructured":"Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B et al (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5:1079\u20131090","journal-title":"Clin J Am Soc Nephrol"},{"key":"7519_CR19","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1007\/s00592-025-02472-9","volume":"62","author":"C Sager-La Ganga","year":"2025","unstructured":"Sager-La Ganga C, Sola C, Castillo K, Figueredo C, Conget I (2025) Diabetes associated with HNF1B: beyond Occam\u2019s razor\u2014a case report. Acta Diabetol 62:1347\u20131350","journal-title":"Acta Diabetol"},{"key":"7519_CR20","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s42000-024-00580-9","volume":"23","author":"A Vourdoumpa","year":"2024","unstructured":"Vourdoumpa A, Paltoglou G, Mertzanian A, Sertedaki A, Sakou II, Karanasios S et al (2024) Challenges in the management of patients with HNF1B MODY and multisystem manifestations: two adolescent boys. Hormones (Athens) 23:439\u2013445","journal-title":"Hormones (Athens)"},{"key":"7519_CR21","first-page":"689","volume":"121","author":"J Eble","year":"2024","unstructured":"Eble J, K\u00f6ttgen A, Schultheiss UT (2024) Monogenic kidney diseases in adults with chronic kidney disease (CKD). Dtsch \u00c4rzteb Int 121:689\u2013695","journal-title":"Dtsch \u00c4rzteb Int"},{"key":"7519_CR22","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"7519_CR23","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1097\/MNH.0000000000000486","volume":"28","author":"ME Armstrong","year":"2019","unstructured":"Armstrong ME, Thomas CP (2019) Diagnosis of monogenic chronic kidney diseases. Curr Opin Nephrol Hypertens 28:183\u2013194","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"7519_CR24","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1007\/s00467-020-04524-4","volume":"35","author":"M Fila","year":"2020","unstructured":"Fila M, Moriniere V, Eckart P, Terzic J, Gubler MC, Antignac C et al (2020) Bi-allelic mutations in renin\u2013angiotensin system genes associated with renal tubular dysgenesis can also present as progressive chronic kidney disease. Pediatr Nephrol 35:1125\u20131128","journal-title":"Pediatr Nephrol"},{"key":"7519_CR25","doi-asserted-by":"publisher","first-page":"411","DOI":"10.5414\/CNP74411","volume":"74","author":"AJ Bleyer","year":"2010","unstructured":"Bleyer AJ, \u017divn\u00e1 M, H\u016flkov\u00e1 H et al (2010) Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 74:411\u2013422","journal-title":"Clin Nephrol"},{"key":"7519_CR26","doi-asserted-by":"publisher","first-page":"sfae213","DOI":"10.1093\/ckj\/sfae213","volume":"17","author":"D Karpman","year":"2024","unstructured":"Karpman D, Lindstrom ML, Moller M, Ivarsson S, Kristoffersson AC, Bekassy Z et al (2024) Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone. Clin Kidney J 17:sfae213","journal-title":"Clin Kidney J"},{"key":"7519_CR27","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.1007\/s00467-006-0410-1","volume":"22","author":"BA Warady","year":"2007","unstructured":"Warady BA, Chadha V (2007) Chronic kidney disease in children: the global perspective. Pediatr Nephrol 22:1999\u20132009","journal-title":"Pediatr Nephrol"},{"key":"7519_CR28","doi-asserted-by":"publisher","DOI":"10.3390\/ijms251910609","volume":"25","author":"E Sanchez-Cazorla","year":"2024","unstructured":"Sanchez-Cazorla E, Carrera N, Garcia-Gonzalez MA (2024) HNF1B transcription factor: key regulator in renal physiology and pathogenesis. Int J Mol Sci 25:10609","journal-title":"Int J Mol Sci"},{"key":"7519_CR29","doi-asserted-by":"publisher","first-page":"1268","DOI":"10.1093\/ndt\/gfad269","volume":"39","author":"WM Zhao","year":"2024","unstructured":"Zhao WM, Li XL, Shi R, Zhu Y, Wang ZJ, Wang XR et al (2024) Global, regional and national burden of CKD in children and adolescents from 1990 to 2019. Nephrol Dial Transplant 39:1268\u20131278","journal-title":"Nephrol Dial Transplant"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07519-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-026-07519-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07519-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T07:50:16Z","timestamp":1789199416000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-026-07519-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,12]]},"references-count":29,"alternative-id":["7519"],"URL":"https:\/\/doi.org\/10.1007\/s00467-026-07519-9","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,12]]},"assertion":[{"value":"21 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 July 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 July 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was approved by the Institutional Ethics Committee of the Royal Hospital, Muscat (Approval # MOH\/CSR\/CR\/26\/1). Written informed consent was obtained from the parents\/legal guardians of all participants.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for the publication of anonymized clinical details and images was obtained.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}