{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T22:37:27Z","timestamp":1783463847549,"version":"3.55.0"},"reference-count":17,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>A 32-year-old woman with no significant medical history was sent to our consultation due to hypokalaemia (&lt;3.0\u2005mmol\/l). Her main complaints were longstanding polyuria and nocturia. Physical examination was normal. Basic investigations showed normal renal function, low serum potassium (2.7\u2005mmol\/l) and magnesium (0.79\u2005mmol\/l), metabolic alkalosis (pH 7.54; bicarbonate 32.5\u2005mmol\/l), elevated urinary potassium (185\u2005mmol\/24\u2005h) and normal urinary calcium (246\u2005mg\/24\u2005h). Thiazide test revealed blunted response. Chronic vomiting and the abuse of diuretics were excluded. Genetic tests for SLC12A3 gene mutation described in Gitelman syndrome (GS) came negative. CLCNKB gene mutation analysis present in both GS and Bartter (BS) type 3 syndromes was positive. The patient is now being treated with potassium and magnesium oral supplements, ramipril and spironolactone with stable near-normal potassium and magnesium levels. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3.<\/jats:p>","DOI":"10.1136\/bcr-2012-007929","type":"journal-article","created":{"date-parts":[[2013,1,23]],"date-time":"2013-01-23T05:49:43Z","timestamp":1358920183000},"page":"bcr2012007929","source":"Crossref","is-referenced-by-count":15,"title":["Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation"],"prefix":"10.1136","volume":"2013","author":[{"given":"Ant\u00f3nio Jos\u00e9","family":"Cruz","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Medicina Interna, Centro Hospitalar de Entre o Douro e Vouga\u2014Hospital de S\u00e3o Sebasti\u00e3o, Santa Maria da Feira, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Castro","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina Interna, Centro Hospitalar de Entre o Douro e Vouga\u2014Hospital de S\u00e3o Sebasti\u00e3o, Santa Maria da Feira, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,1,22]]},"reference":[{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199808133390707"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.2","first-page":"115","article-title":"Diagnosis of hypokalemia: a problem-solving approach to clinical cases","volume":"2","author":"Assadi","year":"2008","journal-title":"Iran J Kidney Dis"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1871-4"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.4","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.02950906"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.5","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hci046"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.6","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-012-0333-9"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2006.01.002"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.8","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.00600.2004"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.9","doi-asserted-by":"publisher","DOI":"10.1159\/000076752"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-171"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-005-1867-z"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0392"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.13","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1681\/ASN.V1181449","article-title":"Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome","volume":"11","author":"Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00730.x"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.15","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.3.521"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.16","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-22"},{"key":"2025082801013855000_2013.jan22_1.bcr2012007929.17","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcr095"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007929","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:01:45Z","timestamp":1756368105000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007929"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,22]]},"references-count":17,"alternative-id":["10.1136\/bcr-2012-007929"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007929","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,22]]}}}