{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:10:17Z","timestamp":1756379417642,"version":"3.44.0"},"reference-count":5,"publisher":"SMC Media","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.<\/jats:p>","DOI":"10.12890\/2021_002182","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T09:52:37Z","timestamp":1621936357000},"source":"Crossref","is-referenced-by-count":0,"title":["Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation"],"prefix":"10.12890","volume":"8","author":[{"given":"Maria Clara","family":"Novais de Matos","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1bio","family":"Correia","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria In\u00eas","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Carola","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"\u00d3rf\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Branco","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"10.12890\/2021_002182_ref1","doi-asserted-by":"crossref","unstructured":"<li>Urwin S, Willows J, Sayer J. The challenges of diagnosis and management of Gitelman syndrome. <em>Clin Endocrinol (Oxf)<\/em> 2020;<strong>92<\/strong>:3\u201310. <\/li>","DOI":"10.1111\/cen.14104"},{"key":"10.12890\/2021_002182_ref2","doi-asserted-by":"crossref","unstructured":"<li>Knoers NVAM, Levtchenko EN. Gitelman syndrome. <em>Orphanet J Rare Dis<\/em> 2008;<strong>6<\/strong>:1\u20136. <\/li>","DOI":"10.1186\/1750-1172-3-22"},{"key":"10.12890\/2021_002182_ref3","doi-asserted-by":"crossref","unstructured":"<li>Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, et al. Spectrum of mutations in Gitelman syndrome. <em>J Am Soc Nephrol<\/em> 2011;<strong>22<\/strong>:693\u2013703. <\/li>","DOI":"10.1681\/ASN.2010090907"},{"key":"10.12890\/2021_002182_ref4","doi-asserted-by":"crossref","unstructured":"<li>Filippatos TD, Rizos CV, Tzavella E, Elisaf MS. Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid\u2013base and electrolyte abnormalities. <em>Int Urol Nephrol<\/em> 2018;<strong>50<\/strong>(1):91\u201396.<\/li>","DOI":"10.1007\/s11255-017-1653-4"},{"key":"10.12890\/2021_002182_ref5","unstructured":"<li>Human Gene Mutation Database [Internet]. Available from: http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php (accessed 25\/11\/2020).<\/li>"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2182\/2512","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2182\/2513","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2182\/2513","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:30:13Z","timestamp":1756377013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/2182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,11]]},"references-count":5,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.12890\/2021_002182","relation":{"has-manifestation":[{"id-type":"other","id":"1-66-2182-g2512","asserted-by":"subject"},{"id-type":"other","id":"1-66-2182-g2513","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-66","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2021,1,11]]},"article-number":"18"}}