{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:44:54Z","timestamp":1777128294878,"version":"3.51.4"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T00:00:00Z","timestamp":1649289600000},"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. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the <jats:italic>KCNJ1<\/jats:italic> gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle\u2019s loop. BS type II is typically considered as a disorder of infancy and seldom seen in adults.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Laboratory tests revealed hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, and nephrocalcinosis. She was misdiagnosed during the initial diagnosis process and was finally diagnosed with late-onset BS type II <jats:italic>via<\/jats:italic> genetic testing through next-generation sequencing combined with Sanger sequencing. A novel compound heterozygous p.Leu207Ile\/p. Cys308Arg variant in exon 5 of the <jats:italic>KCNJ1<\/jats:italic> gene from her parents was identified and speculated to be a potential pathogenic gene variation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a case of late-onset BS type II with a novel compound heterozygous mutation in <jats:italic>KCNJ1<\/jats:italic>. Both variants are novel and have never been reported. Our report will have a significant impact on the diagnosis of BS in other patients without typical clinical presentations and emphasizes the importance of genetic investigation.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2022.862514","type":"journal-article","created":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T07:13:47Z","timestamp":1649315627000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review"],"prefix":"10.3389","volume":"9","author":[{"given":"Mi","family":"Tian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Bi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Qiu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Zhe","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bei-Ru","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1038\/ng.118","article-title":"Rare independent mutations in renal salt handling genes contribute to blood pressure variation.","volume":"40","author":"Ji","year":"2008","journal-title":"Nat Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1097\/MOP.0000000000000447","article-title":"Bartter\u2019s and Gitelman\u2019s syndrome.","volume":"29","author":"Seyberth","year":"2017","journal-title":"Curr Opin Pediatr."},{"key":"B3","doi-asserted-by":"publisher","first-page":"291","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: causes, diagnosis, and treatment.","volume":"11","author":"Cunha","year":"2018","journal-title":"Int J Nephrol Renovasc Dis."},{"key":"B4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s12519-020-00370-4","article-title":"Bartter\u2019s syndrome: clinical findings, genetic causes and therapeutic approach.","volume":"17","author":"Mrad","year":"2021","journal-title":"World J Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1097\/MNH.0000000000000346","article-title":"Pathophysiology of antenatal Bartter\u2019s syndrome.","volume":"26","author":"Komhoff","year":"2017","journal-title":"Curr Opin Nephrol Hypertens."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1056\/NEJMoa1507629","article-title":"Polyhydramnios, transient antenatal Bartter\u2019s syndrome, and MAGED2 mutations.","volume":"374","author":"Laghmani","year":"2016","journal-title":"N Engl J Med."},{"key":"B7","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with burrows-wheeler transform.","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics."},{"key":"B8","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1093\/bioinformatics\/bts627","article-title":"PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data.","volume":"29","author":"Zhang","year":"2013","journal-title":"Bioinformatics."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders.","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med."},{"key":"B10","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/nrg3940","article-title":"Genetic testing. 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