{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T22:15:32Z","timestamp":1766009732975,"version":"3.48.0"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"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. Genet."],"abstract":"<jats:p>Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodulin), REN (renin), MUC1 (mucin 1), and HNF1B (hepatocyte nuclear factor 1-beta). We report a unique Chinese case of ADTKD-UMOD in a patient carrying a UMOD gene mutation. The clinical presentation was complex: in addition to the classic features of UMOD mutations (hyperuricemia and gout), the patient exhibited endocrine and metabolic abnormalities typically linked to REN gene defects (ADTKD-REN), including anemia, hypotension, and hyporeninemic hypoaldosteronism. However, renal biopsy and genetic testing ultimately confirmed the diagnosis as ADTKD caused by a heterozygous missense mutation in UMOD gene.<\/jats:p>","DOI":"10.3389\/fgene.2025.1661377","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T22:10:21Z","timestamp":1766009421000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease"],"prefix":"10.3389","volume":"16","author":[{"given":"Jingying","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enhui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongrong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianfa","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"411","DOI":"10.5414\/cnp74411","article-title":"Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone","volume":"74","author":"Bleyer","year":"2010","journal-title":"Clin. Nephrol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.ajhg.2016.05.028","article-title":"Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia","volume":"99","author":"Bolar","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/nrneph.2017.101","article-title":"Uromodulin: from physiology to rare and complex kidney disorders","volume":"13","author":"Devuyst","year":"2017","journal-title":"Nat. Rev. Nephrol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/ki.2015.28","article-title":"Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report","volume":"88","author":"Eckardt","year":"2015","journal-title":"Kidney Int."},{"key":"B5","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1080\/0886022X.2018.1450757","article-title":"A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review","volume":"40","author":"Lin","year":"2018","journal-title":"Ren. Fail."},{"key":"B7","doi-asserted-by":"publisher","first-page":"30200","DOI":"10.1074\/jbc.M111.222968","article-title":"Activation of the bumetanide-sensitive Na+,K+,2Cl-cotransporter (NKCC2) is facilitated by tamm-horsfall protein in a chloride-sensitive manner","volume":"286","author":"Mutig","year":"2011","journal-title":"J. Biol. Chem."},{"key":"B8","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/j.kint.2020.04.038","article-title":"Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1","volume":"98","author":"Olinger","year":"2020","journal-title":"Kidney Int."},{"key":"B9","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1681\/ASN.2015050544","article-title":"Hepatocyte nuclear factor 1\u03b2-associated kidney disease: more than renal cysts and diabetes","volume":"27","author":"Verhave","year":"2016","journal-title":"J. Am. Soc. Nephrol. JASN"},{"key":"B10","doi-asserted-by":"publisher","first-page":"2963","DOI":"10.1093\/hmg\/ddp235","article-title":"Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum","volume":"18","author":"Williams","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.ajhg.2009.07.010","article-title":"Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure","volume":"85","author":"Zivn\u00e1","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1002\/ajmg.c.32008","article-title":"Autosomal dominant tubulointerstitial kidney disease: a review","volume":"190","author":"Zivna","year":"2022","journal-title":"Am. J. Med. Genet. PART C-SEMINARS Med. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1661377\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T22:10:34Z","timestamp":1766009434000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1661377\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,18]]},"references-count":12,"alternative-id":["10.3389\/fgene.2025.1661377"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2025.1661377","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,18]]},"article-number":"1661377"}}