{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:05:45Z","timestamp":1779188745527,"version":"3.51.4"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109304h0003"],"award-info":[{"award-number":["20ek0109304h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"JSPS KAKENHI grant","award":["19H01049"],"award-info":[{"award-number":["19H01049"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"DOI":"10.1007\/s13730-024-00915-w","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T10:04:50Z","timestamp":1721124290000},"page":"113-118","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren\u2019s syndrome: a case report"],"prefix":"10.1007","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1783-8024","authenticated-orcid":false,"given":"Hiroki","family":"Nobayashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomomichi","family":"Iida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Fujimaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eisei","family":"Sohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuji","family":"Aoyagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Yokoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"915_CR1","doi-asserted-by":"publisher","first-page":"2883","DOI":"10.1097\/01.ASN.0000092147.83480.B5","volume":"14","author":"K Dahan","year":"2003","unstructured":"Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, B\u00fcchler M. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol. 2003;14:2883\u201393.","journal-title":"J Am Soc Nephrol"},{"key":"915_CR2","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.ajhg.2009.07.010","volume":"85","author":"M Zivna","year":"2009","unstructured":"Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet\u2019al P, Kalbacova M, Bare\u0161ov\u00e1 V, Sikora J, Bla\u017ekov\u00e1 H, \u017divn\u00fd J, Iv\u00e1nek R. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85:204\u201313.","journal-title":"Am J Hum Genet"},{"key":"915_CR3","doi-asserted-by":"publisher","first-page":"2001","DOI":"10.1093\/hmg\/8.11.2001","volume":"8","author":"TH Lindner","year":"1999","unstructured":"Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999;8:2001\u20138.","journal-title":"Hum Mol Genet"},{"key":"915_CR4","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/ng.2543","volume":"45","author":"A Kirby","year":"2013","unstructured":"Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45:299\u2013303.","journal-title":"Nat Genet"},{"key":"915_CR5","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, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet. 2016;99:174\u201387.","journal-title":"Am J Hum Genet"},{"key":"915_CR6","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1186\/s12882-018-1107-y","volume":"19","author":"C Gast","year":"2018","unstructured":"Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hoda\u0148ov\u00e1 K, \u017divn\u00e1 M. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 2018;19:301.","journal-title":"BMC Nephrol"},{"key":"915_CR7","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1056\/NEJMoa1806891","volume":"380","author":"EE Groopman","year":"2019","unstructured":"Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380:142\u201351.","journal-title":"N Engl J Med"},{"key":"915_CR8","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, Hosking A, Kmoch S, Rampoldi L, Wiesener M. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management\u2013A KDIGO consensus report. Kidney Int. 2015;88:676\u201383.","journal-title":"Kidney Int"},{"key":"915_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1136\/annrheumdis-2016-210571","volume":"76","author":"CH Shiboski","year":"2017","unstructured":"Shiboski CH, Shiboski SC, Seror R, Criswell LA, Labetoulle M, Lietman TM, Rasmussen A, Scofield H, Vitali C, Bowman SJ, Mariette X. 2016 American College of Rheumatology\/European League Against Rheumatism classification criteria for primary Sjogren\u2019s syndrome: A consensus and data-driven methodology involving three international patient cohorts. Ann Rheum Dis. 2017;76:9\u201316.","journal-title":"Ann Rheum Dis"},{"key":"915_CR10","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/s10157-016-1252-1","volume":"21","author":"T Mori","year":"2017","unstructured":"Mori T, Hosomichi K, Chiga M, Mandai S, Nakaoka H, Sohara E, Okado T, Rai T, Sasaki S, Inoue I, Uchida S. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Clin Exp Nephrol. 2017;21:63\u201375.","journal-title":"Clin Exp Nephrol"},{"key":"915_CR11","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1111\/cge.13249","volume":"94","author":"T Fujimaru","year":"2018","unstructured":"Fujimaru T, Mori T, Sekine A, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Nomura N, Iimori S, Naito S. Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1\/2 in adult sporadic polycystic kidney disease. Clin Genet. 2018;94:125\u201331.","journal-title":"Clin Genet"},{"key":"915_CR12","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1136\/jmg.39.12.882","volume":"39","author":"TC Hart","year":"2002","unstructured":"Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39:882\u201392.","journal-title":"J Med Genet"},{"key":"915_CR13","doi-asserted-by":"publisher","first-page":"2963","DOI":"10.1093\/hmg\/ddp235","volume":"18","author":"SE Williams","year":"2009","unstructured":"Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Moriniere V, Williams P, Wong W. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet. 2009;18:2963\u201374.","journal-title":"Hum Mol Genet"},{"key":"915_CR14","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1016\/j.ekir.2020.06.029","volume":"5","author":"K Kidd","year":"2020","unstructured":"Kidd K, Vylet\u2019al P, Schaeffer C, Olinger E, Zivna M, Hodanova K, Robins V, Johnson E, Taylor A, Martin L, Izzi C. Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations. Kidney Int Rep. 2020;5:1472\u201385.","journal-title":"Kidney Int Rep"},{"key":"915_CR15","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, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"915_CR16","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1038\/ki.2010.89","volume":"77","author":"M Praga","year":"2010","unstructured":"Praga M, Gonzalez E. Acute interstitial nephritis. Kidney Int. 2010;77:956\u201361.","journal-title":"Kidney Int"},{"key":"915_CR17","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1038\/sj.ki.5002679","volume":"73","author":"SH Nasr","year":"2008","unstructured":"Nasr SH, Lucia JP, Galgano SJ, Markowitz GS, D\u2019Agati VD. Uromodulin storage disease. Kidney Int. 2008;73:971\u20136.","journal-title":"Kidney Int"},{"key":"915_CR18","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1159\/000502146","volume":"143","author":"D Liang","year":"2019","unstructured":"Liang D, Liang S, Zhang M, Gao E, Zhang Z, Jin Y, Xu F, Zeng C. Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation: A two-case report and literature review. Nephron. 2019;143:282\u20137.","journal-title":"Nephron"},{"key":"915_CR19","doi-asserted-by":"publisher","first-page":"1077655","DOI":"10.3389\/fmed.2022.1077655","volume":"9","author":"MS Li","year":"2022","unstructured":"Li MS, Li Y, Jiang L, Song ZR, Yu XJ, Wang H, Ren YL, Wang SX, Zhou XJ, Yang L, Zhang H. ADTKD-UMOD in a girl with a de novo mutation: A case report. Front Med (Lausanne). 2022;9:1077655.","journal-title":"Front Med (Lausanne)"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-024-00915-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-024-00915-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-024-00915-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T03:19:00Z","timestamp":1743650340000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-024-00915-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,16]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["915"],"URL":"https:\/\/doi.org\/10.1007\/s13730-024-00915-w","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,16]]},"assertion":[{"value":"5 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2024","order":3,"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":"Conflict of interest"}},{"value":"The Tokyo Medical and Dental University Institutional Review Board approved this study (approval number G2000-080).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The study participant provided written informed consent and agreed to the use of their DNA in studies that identified genetic risk variants for kidney function.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Informed consent for publication was obtained from the patient.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}