{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:44Z","timestamp":1784557004629,"version":"3.55.0"},"reference-count":22,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,1,1]]},"abstract":"Summary<\/jats:title>\n Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes.<\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies.<\/jats:p>\n <\/jats:list-item>\n \n GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people.<\/jats:p>\n <\/jats:list-item>\n \n GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia.<\/jats:p>\n <\/jats:list-item>\n \n Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/edm-13-0067","type":"journal-article","created":{"date-parts":[[2014,1,25]],"date-time":"2014-01-25T01:08:54Z","timestamp":1390612134000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["A man with a worrying potassium deficiency"],"prefix":"10.1530","volume":"2014","author":[{"given":"A","family":"Tabasum","sequence":"first","affiliation":[{"name":"1 Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Shute","sequence":"additional","affiliation":[{"name":"1 Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Datta","sequence":"additional","affiliation":[{"name":"2 Biochemistry, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"George","sequence":"additional","affiliation":[{"name":"1 Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref81","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1172\/JCI31680","article-title":"Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia","volume":"117","year":"2007","journal-title":"Journal of Clinical Investigation"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1093\/qjmed\/hcq123","article-title":"Gitelman syndrome: pathophysiological and clinical aspects","volume":"103","year":"2010","journal-title":"QJM : Monthly Journal of the Association of Physicians"},{"key":"ref51","first-page":"18","article-title":"Bartter's, Gitelman's, and Gordon's syndromes. From physiology to molecular biology and back, yet still some unanswered questions","volume":"92","year":"2001","journal-title":"Nephron"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1111\/j.1365-2362.2008.02034.x","article-title":"Myocardial perfusion defects in Bartter and Gitelman syndromes","volume":"38","year":"2008","journal-title":"European Journal of Clinical Investigation"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-3-22","article-title":"Gitelman syndrome","volume":"3","year":"2008","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1038\/ki.1996.426","article-title":"Thiazide treatment of rats provokes apoptosis in distal tubule cells","volume":"50","year":"1996","journal-title":"Kidney International"},{"key":"ref161","first-page":"18","article-title":"Bartter's, Gitelman's, and Gordon's syndromes. From physiology to molecular biology and back, yet still some unanswered questions","volume":"92","year":"2001","journal-title":"Nephron"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"17114","DOI":"10.1074\/jbc.M700632200","article-title":"Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium","volume":"282","year":"2007","journal-title":"Journal of Biological Chemistry"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-3-22","article-title":"Gitelman syndrome","volume":"3","year":"2008","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1097\/00000441-200112000-00004","article-title":"Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes","volume":"322","journal-title":"American Journal of the Medical 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hypokalemia\u2013hypomagnesemia)","volume":"11","year":"2007","journal-title":"Hippokratia"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1074\/jbc.M311201200","article-title":"TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption","volume":"279","year":"2004","journal-title":"Journal of Biological Chemistry"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1074\/jbc.M311201200","article-title":"TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption","volume":"279","year":"2004","journal-title":"Journal of Biological Chemistry"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1523-1755.2001.059002710.x","article-title":"Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life","volume":"59","year":"2001","journal-title":"Kidney 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