{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T06:19:58Z","timestamp":1791699598991,"version":"4.3.4"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the\n                    <jats:italic>SLC12A3<\/jats:italic>\n                    gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.\n                  <\/jats:p>\n                  <jats:p>Here we report on two preschool brothers, who presented with a several months\u2019 history of episodes of carpopedal spasms and muscle aches.<\/jats:p>\n                  <jats:p>The biochemical analyses revealed hypokalemia and hypomagnesemia without metabolic alkalosis. A 24-h urine sample demonstrated hypocalciuria.<\/jats:p>\n                  <jats:p>\n                    The molecular analyses showed that both patients were heterozygous for 3 (likely) pathogenic variants in\n                    <jats:italic>SLC12A3<\/jats:italic>\n                    : c.1805_1806del; p. (Tyr602Cysfs*31), c.2660+1G&gt;A and c.2944 A&gt;T; p. (Ile982Phe). Analysis of the parents showed that the mother was heterozygous for the c.2944 A&gt;T p.(Ile982Phe) variant, and the father carried the other 2 variants (c.1805_1806del and c.2660+1G&gt;A).\n                  <\/jats:p>\n                  <jats:p>Herein we present two children in a family from N. Macedonia with clinical manifestations and electrolyte imbalances suggestive of GS. The results of the tubulopathy next generation sequencing (NGS) panel confirmed the diagnosis. The boys are treated with a high salt diet and oral potassium and magnesium supplements.<\/jats:p>","DOI":"10.2478\/bjmg-2023-0009","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T05:53:39Z","timestamp":1691646819000},"page":"69-74","source":"Crossref","is-referenced-by-count":1,"title":["Two Brothers from Macedonia with Gitelman Syndrome"],"prefix":"10.2478","volume":"26","author":[{"given":"A","family":"Janchevska","sequence":"first","affiliation":[{"name":"University Children\u2019s hospital , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Tasic","sequence":"additional","affiliation":[{"name":"University Children\u2019s hospital , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Jordanova","sequence":"additional","affiliation":[{"name":"University Children\u2019s hospital , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Gucev","sequence":"additional","affiliation":[{"name":"University Children\u2019s hospital , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Jenkins","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetic Laboratory , Great Ormond Street Hospital for children , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Jovanovska","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology \u201cGeorgi D Efremov\u201d , Macedonian Academy of Sciences and Arts , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology \u201cGeorgi D Efremov\u201d , Macedonian Academy of Sciences and Arts , Skopje , Rep. of N. Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Ashton","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetic Laboratory , Great Ormond Street Hospital for children , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetic Laboratory , Great Ormond Street Hospital for children , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,7,31]]},"reference":[{"key":"2026042718353124900_j_bjmg-2023-0009_ref_001","doi-asserted-by":"crossref","unstructured":"Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: pathophysiological and clinical aspects. QJM. 2010; 103(10):741\u2013748.","DOI":"10.1093\/qjmed\/hcq123"},{"key":"2026042718353124900_j_bjmg-2023-0009_ref_002","unstructured":"Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966; 79: 221\u2013235."},{"key":"2026042718353124900_j_bjmg-2023-0009_ref_003","doi-asserted-by":"crossref","unstructured":"Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM et al. Gitelman\u2019s variant of Bartter\u2019s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet. 1996; 12: 24\u201330.","DOI":"10.1038\/ng0196-24"},{"key":"2026042718353124900_j_bjmg-2023-0009_ref_004","doi-asserted-by":"crossref","unstructured":"Knoers NVA, Levtchenko EN. Gitelman syndrome. 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Tohoku J Exp Med. 2013; 231(3):165\u2013169.","DOI":"10.1620\/tjem.231.165"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2023-0009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:45:47Z","timestamp":1777326347000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2023-0009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,1]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,7,31]]},"published-print":{"date-parts":[[2023,7,1]]}},"alternative-id":["10.2478\/bjmg-2023-0009"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2023-0009","relation":{},"ISSN":["2199-5761"],"issn-type":[{"value":"2199-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,1]]}}}