{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:15:02Z","timestamp":1782357302614,"version":"3.54.5"},"reference-count":35,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,27]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>A 32-year-old woman presented with an incidental finding of hypokalaemia on routine bloods at 9 weeks of a second pregnancy, on a background of lifelong salt craving. Her previous pregnancy was uncomplicated. She had no previous significant medical or family history. Venous blood gases showed a hypokalaemic, normochloraemic metabolic alkalosis. Urinary potassium was elevated. Escalating doses of oral supplementation of potassium, magnesium, sodium and potassium-sparing diuretics were required through the course of pregnancy, in response to regular electrolyte monitoring. These were later weaned and completely stopped post partum. Delivery was uneventful with no maternal or neonatal complications. Genetic testing performed post partum showed heterogenous mutation of SCL12A3 gene.<\/jats:p>","DOI":"10.1136\/bcr-2021-241756","type":"journal-article","created":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T13:11:06Z","timestamp":1620825066000},"page":"e241756","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4976-3223","authenticated-orcid":false,"given":"Marie","family":"Lim","sequence":"first","affiliation":[{"name":"Colchester General Hospital, Colchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gannon","sequence":"additional","affiliation":[{"name":"Emergency Admission Unit, Colchester General Hospital, Colchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,5,12]]},"reference":[{"key":"2025082704045966000_14.5.e241756.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-22"},{"key":"2025082704045966000_14.5.e241756.2","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 Physicians"},{"key":"2025082704045966000_14.5.e241756.3","doi-asserted-by":"crossref","first-page":"55","DOI":"10.5662\/wjm.v5.i2.55","article-title":"Bartter and Gitelman syndromes: spectrum of clinical manifestations caused by different mutations","volume":"5","author":"Al Shibli","year":"2015","journal-title":"World J Methodol"},{"key":"2025082704045966000_14.5.e241756.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-24"},{"key":"2025082704045966000_14.5.e241756.5","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010090907"},{"key":"2025082704045966000_14.5.e241756.6","doi-asserted-by":"publisher","DOI":"10.1159\/000068695"},{"key":"2025082704045966000_14.5.e241756.7","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006101095"},{"key":"2025082704045966000_14.5.e241756.8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200317443"},{"key":"2025082704045966000_14.5.e241756.9","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"},{"key":"2025082704045966000_14.5.e241756.10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.79.1.258"},{"key":"2025082704045966000_14.5.e241756.11","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(86)90824-0"},{"key":"2025082704045966000_14.5.e241756.12","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106926"},{"key":"2025082704045966000_14.5.e241756.13","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2015-212375","article-title":"Management of a severe case of Gitelman syndrome with poor response to standard treatment","volume":"2016","author":"Koudsi","year":"2016","journal-title":"BMJ Case Rep"},{"key":"2025082704045966000_14.5.e241756.14","doi-asserted-by":"publisher","DOI":"10.1159\/000168701"},{"key":"2025082704045966000_14.5.e241756.15","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.51.5723"},{"key":"2025082704045966000_14.5.e241756.16","doi-asserted-by":"crossref","DOI":"10.1111\/j.1445-5994.2008.01664.x","article-title":"Eplerenone in the treatment of Gitelman's syndrome","volume":"38","author":"Morton","year":"2008","journal-title":"Intern Med J"},{"key":"2025082704045966000_14.5.e241756.17","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1440-1797.2010.01396.x","article-title":"Eplerenone for Gitelman syndrome in pregnancy","volume":"16","author":"Morton","year":"2011","journal-title":"Nephrology"},{"key":"2025082704045966000_14.5.e241756.18","doi-asserted-by":"crossref","first-page":"594","DOI":"10.5301\/jn.5000256","article-title":"It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia","volume":"26","author":"Brambilla","year":"2013","journal-title":"J Nephrol"},{"key":"2025082704045966000_14.5.e241756.19","doi-asserted-by":"publisher","DOI":"10.1136\/adc.81.6.508"},{"key":"2025082704045966000_14.5.e241756.20","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfu029"},{"key":"2025082704045966000_14.5.e241756.21","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014030293"},{"key":"2025082704045966000_14.5.e241756.22","article-title":"Magnesium: the forgotten Electrolyte-A review on hypomagnesemia","volume":"7","author":"Ahmed","year":"2019","journal-title":"Med Sci"},{"key":"2025082704045966000_14.5.e241756.23","doi-asserted-by":"publisher","DOI":"10.3109\/14767051003678010"},{"key":"2025082704045966000_14.5.e241756.24","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-009-0994-3"},{"key":"2025082704045966000_14.5.e241756.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijgo.2008.05.007"},{"key":"2025082704045966000_14.5.e241756.26","doi-asserted-by":"publisher","DOI":"10.1111\/j.1479-828X.2010.01156.x"},{"key":"2025082704045966000_14.5.e241756.27","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp688"},{"key":"2025082704045966000_14.5.e241756.28","doi-asserted-by":"publisher","DOI":"10.1111\/j.1479-828X.2010.01248.x"},{"key":"2025082704045966000_14.5.e241756.29","first-page":"147","article-title":"Outcome of two pregnancies in a patient with Gitelman's syndrome-a case report","volume":"8","author":"Jones","year":"1998","journal-title":"J Matern Fetal Investig"},{"key":"2025082704045966000_14.5.e241756.30","doi-asserted-by":"crossref","first-page":"p35","DOI":"10.1159\/000086418","article-title":"Outcome of pregnancy in a patient with Gitelman syndrome: a case report","volume":"101","author":"Talaulikar","year":"2005","journal-title":"Nephron Physiol"},{"key":"2025082704045966000_14.5.e241756.31","doi-asserted-by":"publisher","DOI":"10.1258\/om.2010.100046"},{"key":"2025082704045966000_14.5.e241756.32","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2012-007927","article-title":"Outpatient management of Gitelman's syndrome in pregnancy","volume":"2013","author":"Mathen","year":"2013","journal-title":"BMJ Case Rep"},{"key":"2025082704045966000_14.5.e241756.33","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1575-1"},{"key":"2025082704045966000_14.5.e241756.34","doi-asserted-by":"crossref","DOI":"10.4103\/0971-4065.156904","article-title":"Gitelman syndrome in an infant","volume":"25","author":"Nandi","year":"2015","journal-title":"Indian J Nephrol"},{"key":"2025082704045966000_14.5.e241756.35","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80594-3"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:05:07Z","timestamp":1756292707000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":35,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5,12]]},"published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1136\/bcr-2021-241756"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241756","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}