{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T05:48:04Z","timestamp":1782193684418,"version":"3.54.5"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"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>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype\u2013phenotype correlation in Chinese children with Gitelman syndrome (GS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical and genetic data of 30 genetically confirmed pediatric GS cases (2015\u20132025) were retrospectively analyzed. Patients were grouped by sex, serum potassium level, and mutation functional domain.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Mean onset age was 7.9\u2009\u00b1\u20093.4years. Common manifestations included muscle weakness (50%) and limb numbness (40%). All patients had hypokalemia; 90% had hypomagnesemia. Female patients exhibited more limb numbness and lower serum calcium. Severe hypokalemia (&amp;lt;2.5\u2005mmol\/L) was associated with tetany, dyslipidemia, and increased urinary potassium excretion. Genetic testing identified 55 SLC12A3 variants (6 novel), with high-frequency mutations c.1456G\u2009&amp;gt;\u2009A (p.D486N) and c.179C\u2009&amp;gt;\u2009T (p.T60M). No phenotypic difference was found based on functional domain classification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Pediatric GS shows significant clinical heterogeneity. Severe hypokalemia is accompanied by early dyslipidemiaindicates. SLC12A3 variants are diverse; functional domain alone cannot predict phenotype. Early screening and long-term follow-up are essential for optimal management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1853435","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T05:26:00Z","timestamp":1782192360000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome"],"prefix":"10.3389","volume":"14","author":[{"given":"Wenyan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Nephrology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixia","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songming","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children\u2019s Hospital of Nanjing Medical University","place":["Nanjing, Jiangsu, 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