{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:10:02Z","timestamp":1756372202516,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,5,15]]},"abstract":"<jats:p>Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia\u2014Gitelman syndrome (GS).<\/jats:p>\n               <jats:p>GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification. An ophthalmologist was reviewing the medical literature, which prompted them to investigate for GS. A diagnosis was formed at that time based on the blood and urine chemistry results. However, later we were able to offer the patient genetic testing, which confirmed our provisional diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2017-223680","type":"journal-article","created":{"date-parts":[[2018,6,5]],"date-time":"2018-06-05T09:06:42Z","timestamp":1528189602000},"page":"bcr-2017-223680","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Differential diagnosis for chronic hypokalaemia"],"prefix":"10.1136","volume":"2018","author":[{"given":"Laura","family":"Stimson","sequence":"first","affiliation":[{"name":"Burton Hospitals NHS Foundation Trust, Burton on Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Reynolds","sequence":"additional","affiliation":[{"name":"Clinical Chemistry, Queen\u2019s Hospital, Burton on Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,6,5]]},"reference":[{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-011-9556-0"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-22"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.3","first-page":"150","article-title":"Gitelman\u2019s syndrome (familial hypokalemia-hypomagnesemia)","volume":"11","author":"Gjata","year":"2007","journal-title":"Hippokratia"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.4","unstructured":"Bartter\u2019s Syndrome - NORD (National Organization for Rare Disorders). NORD 2018 https:\/\/rarediseases.org\/rare-diseases\/bartters-syndrome\/ (accessed 9 May 2018)."},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.5","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1053\/ajkd.2001.25210","article-title":"Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman\u2019s syndrome","volume":"38","author":"Bonfante","year":"2001","journal-title":"Am J Kidney Dis"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.6","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.059002710.x"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.7","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1001\/archopht.119.6.833","volume":"119","author":"Honavar","year":"2001","journal-title":"Archives of Ophthalmology"},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.8","unstructured":"UK Genetic Testing Network. Gitelman Syndrome: Postnatal Diagnosis Routine by Sequencing of the entire coding region of gene (s) PLUS copy number analysis at Cambridge RGC in 40 days. 2018 https:\/\/ukgtn.nhs.uk\/find-a-test\/search-by-disorder-gene\/details\/524\/ (Accessed 15 Feb 2018)."},{"key":"2025082801502392000_2018.jun04_3.bcr-2017-223680.9","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014030293"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-223680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:50:32Z","timestamp":1756371032000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-223680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,5]]},"references-count":9,"alternative-id":["10.1136\/bcr-2017-223680"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-223680","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,6,5]]}}}