{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T22:53:19Z","timestamp":1782427999081,"version":"3.54.5"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:00:00Z","timestamp":1612483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria and a low or normal blood pressure, hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the potassium and magnesium levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However, the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta and coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Mg levels. Calcification is much less common in Bartter syndrome, which itself is rarer and associated less often with hypomagnesemia.<\/jats:p>","DOI":"10.1093\/ckj\/sfab034","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T06:10:25Z","timestamp":1612419025000},"page":"2023-2028","source":"Crossref","is-referenced-by-count":15,"title":["Gitelman syndrome and ectopic calcification in the retina and joints"],"prefix":"10.1093","volume":"14","author":[{"given":"Yeji","family":"Ham","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Melbourne, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Mack","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deb","family":"Colville","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Melbourne, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Harraka","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Melbourne, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Savige","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Melbourne, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,2,5]]},"reference":[{"key":"2021083109013736500_sfab034-B1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s12020-011-9556-0","article-title":"Gitelman\u2019s syndrome: a pathophysiological and clinical update","volume":"41","author":"Nakhoul","year":"2012","journal-title":"Endocrine"},{"key":"2021083109013736500_sfab034-B2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng0196-24","article-title":"Gitelman\u2019s variant of Bartter\u2019s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter","volume":"12","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"2021083109013736500_sfab034-B3","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 Phys"},{"key":"2021083109013736500_sfab034-B4","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":"2021083109013736500_sfab034-B5","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1523-1755.2001.059002710.x","article-title":"Gitelman\u2019s syndrome revisited: an evaluation of symptoms and health-related quality of life","volume":"59","author":"Cruz","year":"2001","journal-title":"Kidney Int"},{"key":"2021083109013736500_sfab034-B6","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/qjmed\/hcw045","article-title":"Chondrocalcinosis and Gitelman syndrome","volume":"109","author":"Iqbal","year":"2016","journal-title":"QJM"},{"key":"2021083109013736500_sfab034-B7","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1159\/000013614","article-title":"Hypomagnesemia and chondrocalcinosis in Bartter\u2019s and Gitelman\u2019s syndrome: review of the pathogenetic mechanisms","volume":"20","author":"Calo","year":"2000","journal-title":"Am J Nephrol"},{"key":"2021083109013736500_sfab034-B8","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s004670050461","article-title":"Bartter and related syndromes: the puzzle is almost solved","volume":"12","author":"Rodriguez-Soriano","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"2021083109013736500_sfab034-B9","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00467-015-3143-1","article-title":"Pathophysiology and clinical presentations of salt-losing tubulopathies","volume":"31","author":"Seyberth","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"2021083109013736500_sfab034-B10","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.0954-6820.1988.tb16755.x","article-title":"Bartter\u2019s syndrome. 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