{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:40:12Z","timestamp":1756291212282,"version":"3.44.0"},"reference-count":23,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,6,2]]},"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:p>Classic Bartter syndrome is a rare condition caused by mutations in the <jats:italic>CLCNKB<\/jats:italic> gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child\u2019s sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope and hypertension, but normal growth and development. All common causes of hypertension were ruled out. Genetic testing found two novel mutations in the <jats:italic>CLCNKB<\/jats:italic> gene, that is, Ser12Ala (exon 2) and Glu192Ter (exon 6). His estimated glomerular filtration rate was 61\u2009mL\/min\/1.73\u2009m<jats:sup>2<\/jats:sup> and a kidney biopsy showed focal segmental glomerulosclerosis. He was well managed with long-term enalapril therapy instead of non-steroidalanti-inflammatory drugs which are recommended in managing the increased prostaglandin E2 production in Bartter syndrome. Paediatricians should be alerted with the variability in its presentation. To preserve the kidney function, treatment must include preventing factors damaging the kidneys.<\/jats:p>","DOI":"10.1136\/bcr-2019-233872","type":"journal-article","created":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T02:05:14Z","timestamp":1594001114000},"page":"e233872","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Two novel mutations in the <i>CLCNKB<\/i> gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy"],"prefix":"10.1136","volume":"13","author":[{"given":"Binh T","family":"Le","sequence":"first","affiliation":[{"name":"Department of Nephroendocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-0047","authenticated-orcid":false,"given":"Cuong M","family":"Duong","sequence":"additional","affiliation":[{"name":"School of Public Health and Community Medicine, University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tien Q","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Nephroendocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi-Bao","family":"Bui","sequence":"additional","affiliation":[{"name":"School of Medicine, Vietnam National University, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,7,5]]},"reference":[{"key":"2025082703000186000_13.7.e233872.1","doi-asserted-by":"crossref","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":"2025082703000186000_13.7.e233872.2","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1681\/ASN.V1181449","article-title":"Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome","volume":"11","author":"Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"2025082703000186000_13.7.e233872.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-183"},{"key":"2025082703000186000_13.7.e233872.4","doi-asserted-by":"crossref","DOI":"10.1186\/1752-1947-7-283","article-title":"Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report","volume":"7","author":"Adachi","year":"2013","journal-title":"J Med Case Rep"},{"key":"2025082703000186000_13.7.e233872.5","unstructured":"Devuyst O , Belge H , Konrad M . 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