{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T14:48:07Z","timestamp":1781880487448,"version":"3.54.5"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,4,29]]},"abstract":"<jats:p>Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.<\/jats:p>\n               <jats:p>A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K<jats:sup>+<\/jats:sup> 2.7 mEq\/L (r.v.3.5\u20135.1), 24\u2009hours urinary K<jats:sup>+<\/jats:sup> 84.7 mEq\/24\u2009hours (r.v.25\u2013125), Mg<jats:sup>2+<\/jats:sup> 0.71 mg\/dL (r.v.1.6\u20132.6), 24\u2009hours urinary Mg<jats:sup>2+<\/jats:sup> 143.1 mg\/24\u2009hours (r.v.73\u2013122), Ca<jats:sup>2+<\/jats:sup> 12 mg\/dL (r.v.8.4\u201310.2), aldosterone 47.1 ng\/mL (r.v. 4\u201331) and active renin 374.7 uUI\/mL (r.v.4.4\u201346.1). She was diagnosed with GS and was treated with spironolactone, oral K<jats:sup>+<\/jats:sup> and\u2009Mg<jats:sup>2+<\/jats:sup> supplementation. Further investigation confirmed hypercalcaemia due to primary hyperparathyroidism owing to a single parathyroid adenoma. Following parathyroidectomy serum calcium normalised.<\/jats:p>\n               <jats:p>Current knowledge favours that hypomagnesaemia in patients with GS protects them from hypercalcaemia. In this context of multiple electrolyte imbalances, correction of hypomagnesaemia is a challenge and should be done carefully. Like in our patient, aetiology of hypercalcaemia should be promptly diagnosed and reversed.<\/jats:p>","DOI":"10.1136\/bcr-2017-223663","type":"journal-article","created":{"date-parts":[[2018,6,5]],"date-time":"2018-06-05T09:07:37Z","timestamp":1528189657000},"page":"bcr-2017-223663","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Gitelman syndrome and primary hyperparathyroidism: a rare association"],"prefix":"10.1136","volume":"2018","author":[{"given":"Teresa","family":"Rego","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Hospital Curry Cabral, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Hospital Curry Cabral, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Cerqueira","sequence":"additional","affiliation":[{"name":"CGC Genetics, Molecular Diagnostics and Clinical Genomics, CGC Genetics, Porto, Portugal, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Agapito","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Hospital Curry Cabral, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,6,5]]},"reference":[{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.1","first-page":"221","article-title":"A new familial disorder characterized by hypokalemia, hypomagnesemia","volume":"79","author":"Gitelman","year":"1966","journal-title":"Trans Assoc Am Physiol"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-22"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199904153401507"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.4","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcq123"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.5","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2003.10.018"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.1.224"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.7","first-page":"241","article-title":"An unusual case of Gitelman\u2019s syndrome with hypercalcemia","volume":"34","author":"Wen","year":"2012","journal-title":"Ren Fail"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.8","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0140-6736(09)60507-9","article-title":"Hyperparathyroidism","volume":"374","author":"Fraser","year":"2009","journal-title":"The Lancet"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-24"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.10","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000017904.77985.03"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.189"},{"key":"2025082622554101000_2018.jun04_3.bcr-2017-223663.12","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1002\/ccr3.874","article-title":"Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review","volume":"5","author":"Xia","year":"2017","journal-title":"Clin Case Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-223663","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T05:55:46Z","timestamp":1756274146000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-223663"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,5]]},"references-count":12,"alternative-id":["10.1136\/bcr-2017-223663"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-223663","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,5]]}}}