{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:40:03Z","timestamp":1756363203718,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,12,30]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1\u201310\/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old man referred to a nephrology appointment due to persistent hypokalaemia and hypomagnesaemia. Complementary evaluation revealed hypokalaemia, hypomagnesaemia, metabolic alkalosis, hyperreninaemia, increased chloride and sodium urinary excretion, and reduced urinary calcium excretion. Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of GS was established and confirmed with genetic testing which revealed a novel mutation in SLC12A3 (c.1072del, p.(Ala358Profs*12)). This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.<\/jats:p>","DOI":"10.1136\/bcr-2020-238097","type":"journal-article","created":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T12:14:52Z","timestamp":1610972092000},"page":"e238097","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel SLC12A3 mutation in Gitelman syndrome"],"prefix":"10.1136","volume":"14","author":[{"given":"Rita","family":"Ver\u00edssimo","sequence":"first","affiliation":[{"name":"Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds","family":"Leite de Sousa","sequence":"additional","affiliation":[{"name":"Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4140-8390","authenticated-orcid":false,"given":"Tiago J","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Fidalgo","sequence":"additional","affiliation":[{"name":"Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,1,18]]},"reference":[{"key":"2025082723061569000_14.1.e238097.1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.kint.2016.09.046","article-title":"Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference","volume":"91","author":"Blanchard","year":"2017","journal-title":"Kidney Int"},{"key":"2025082723061569000_14.1.e238097.2","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.nefro.2015.04.006","article-title":"A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene","volume":"36","author":"Wolyniec","year":"2016","journal-title":"Nefrologia"},{"key":"2025082723061569000_14.1.e238097.3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-1"},{"key":"2025082723061569000_14.1.e238097.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng.118"},{"key":"2025082723061569000_14.1.e238097.5","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1159\/000141932","article-title":"A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney","volume":"28","author":"Shao","year":"2008","journal-title":"Am J Nephrol"},{"key":"2025082723061569000_14.1.e238097.6","first-page":"221","article-title":"A new familial disorder characterized by hypokalemia and hypomagnesemia","volume":"79","author":"Gitelman","year":"1966","journal-title":"Trans Assoc Am Physicians"},{"key":"2025082723061569000_14.1.e238097.7","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.059002710.x"},{"key":"2025082723061569000_14.1.e238097.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1575-1"},{"key":"2025082723061569000_14.1.e238097.9","first-page":"1","article-title":"Gitelman\u2019s syndrome-associated hypokalemia: A case report","volume":"1","author":"Mitaeb A","year":"2018","journal-title":"Clin Sci Res Reports"},{"key":"2025082723061569000_14.1.e238097.10","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/cen.14104","article-title":"The challenges of diagnosis and management of Gitelman syndrome","volume":"92","author":"Urwin","year":"2020","journal-title":"Clin Endocrinol"},{"key":"2025082723061569000_14.1.e238097.11","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010090907"},{"key":"2025082723061569000_14.1.e238097.12","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.189"},{"key":"2025082723061569000_14.1.e238097.13","doi-asserted-by":"crossref","first-page":"551","DOI":"10.5527\/wjn.v5.i6.551","article-title":"New SLC12A3 disease causative mutation of Gitelman's syndrome","volume":"5","author":"Grillone","year":"2016","journal-title":"World J Nephrol"},{"key":"2025082723061569000_14.1.e238097.14","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00011.2004"},{"key":"2025082723061569000_14.1.e238097.15","doi-asserted-by":"crossref","unstructured":"Valdez-flores MA , Vargas-poussou R , Verkaart S , et al . 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