{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T12:12:36Z","timestamp":1785499956651,"version":"3.56.0"},"reference-count":42,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2004,3,29]],"date-time":"2004-03-29T00:00:00Z","timestamp":1080518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,3,29]],"date-time":"2004-03-29T00:00:00Z","timestamp":1080518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Physiol"],"abstract":"<jats:p>Bartter\u2019s and Gitelman\u2019s syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter\u2019s and Gitelman\u2019s syndromes. Neonatal Bartter\u2019s syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter\u2019s syndrome by mutations of ClC-Kb, Bartter\u2019s syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman\u2019s syndrome to mutations of NCCT and Bartter\u2019s syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. We review the pathophysiology of these syndromes in relation to their clinical presentation.<\/jats:p>","DOI":"10.1159\/000076752","type":"journal-article","created":{"date-parts":[[2004,4,2]],"date-time":"2004-04-02T06:46:29Z","timestamp":1080888389000},"page":"p65-p78","source":"Crossref","is-referenced-by-count":110,"title":["Bartter\u2019s and Gitelman\u2019s Syndromes: From Gene to 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