{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:44:57Z","timestamp":1777128297597,"version":"3.51.4"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"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>Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We report a 14-year-old boy with Bartter syndrome caused by a c.1792C\u2009&amp;gt;\u2009T (<jats:italic>p<\/jats:italic>.Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1169486","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T05:40:00Z","timestamp":1680154800000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report"],"prefix":"10.3389","volume":"11","author":[{"given":"Jingqi","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yudi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochuan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongzhen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"11414","DOI":"10.3390\/ijms222111414","article-title":"Molecular basis, diagnostic challenges and therapeutic approaches of bartter and gitelman syndromes: a primer for clinicians","volume":"22","author":"Nunez-Gonzalez","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B2","doi-asserted-by":"publisher","first-page":"620","DOI":"10.2215\/CJN.14481119","article-title":"Inherited tubulopathies of the kidney: insights from genetics","volume":"16","author":"Downie","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1007\/s12020-019-01856-6","article-title":"Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I","volume":"64","author":"Han","year":"2019","journal-title":"Endocrine"},{"key":"B4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s12519-020-00370-4","article-title":"Bartter's 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":"2540","DOI":"10.1681\/ASN.2016101057","article-title":"Clinical and genetic spectrum of bartter syndrome type 3","volume":"28","author":"Seys","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1093\/ndt\/gfn689","article-title":"Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome","volume":"24","author":"Brochard","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"B7","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"Birkenhager","year":"2001","journal-title":"Nat Genet"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1007\/s00431-008-0883-y","article-title":"Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel","volume":"168","author":"Lin","year":"2009","journal-title":"Eur J Pediatr"},{"key":"B9","doi-asserted-by":"publisher","first-page":"815","DOI":"10.10538\/j.ek2018100618","article-title":"One case report of pediatric Bartter syndromes complication with glomerulosclerosis renal failure","volume":"33","author":"Zhang","year":"2018","journal-title":"Chin J Pract Pediatri"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e233872","DOI":"10.1136\/bcr-2019-233872","article-title":"Two novel mutations in the CLCNKB gene leading to classic bartter syndrome presenting as syncope and hypertension in a 13-year-old boy","volume":"13","author":"Le","year":"2020","journal-title":"BMJ Case Rep"},{"key":"B11","doi-asserted-by":"publisher","first-page":"665661","DOI":"10.3389\/fmolb.2021.665661","article-title":"Comprehensive metabolic signature of renal dysplasia in children. 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