{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T17:51:46Z","timestamp":1767117106574,"version":"3.41.2"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"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:sec><jats:title>Background<\/jats:title><jats:p>Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by <jats:italic>REN<\/jats:italic>-causing pathogenic variants (ADTKD-<jats:italic>REN<\/jats:italic>) is a rare group of heritable diseases. ADTKD-<jats:italic>REN<\/jats:italic> often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-<jats:italic>REN<\/jats:italic> remains challenging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G&amp;gt;A;p.Cys362Tyr (not previously reported in the literature) through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease, he was diagnosed with ADTKD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case identified a new variant in the <jats:italic>REN<\/jats:italic> gene, expanding the known spectrum of <jats:italic>REN<\/jats:italic> pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2024.1415064","type":"journal-article","created":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T04:31:53Z","timestamp":1733891513000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease"],"prefix":"10.3389","volume":"12","author":[{"given":"Jingyu","family":"Ma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhijuan","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiejie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,12,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1038\/ki.2014.125","article-title":"Autosomal dominant tubulointerstitial kidney disease: of names and 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