{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:43:52Z","timestamp":1777128232553,"version":"3.51.4"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,7,29]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte imbalance due to loss of sodium, chloride and potassium. Gain of function mutations in the calcium-sensing receptor has been described in some patients with Bartter\u2019s syndrome (type-5 Bartter syndrome or autosomal dominant hypocalcaemia with Bartter syndrome) associated with hypocalcaemia and hypercalciuria differentiating it from Gitelman syndrome. This phenotype has been reported to present in adulthood with metabolic abnormalities. We present a case of a middle-aged woman who presented with metabolic seizures and on evaluation was found to have profound electrolyte abnormalities which were corrected with supplements and led to the resolution of symptoms.<\/jats:p>","DOI":"10.1136\/bcr-2020-235349","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T11:20:46Z","timestamp":1613560846000},"page":"e235349","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Type-5 Bartter syndrome presenting with metabolic seizure in adulthood"],"prefix":"10.1136","volume":"14","author":[{"given":"Aqeel","family":"Hussain","sequence":"first","affiliation":[{"name":"Pulmonary, Critical Care and Sleep Medicine, All India Institute of Medical Science\u2014Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahendra","family":"Atlani","sequence":"additional","affiliation":[{"name":"Nephrology, All India Institute of Medical Science\u2014Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1719-4505","authenticated-orcid":false,"given":"Abhishek","family":"Goyal","sequence":"additional","affiliation":[{"name":"Pulmonary Medicine, All India Institute of Medical Science\u2014Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alkesh Kumar","family":"Khurana","sequence":"additional","affiliation":[{"name":"Pulmonary Medicine, All India Institute of Medical Science\u2014Bhopal, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,2,17]]},"reference":[{"key":"2025082713091054000_14.2.e235349.1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: causes, diagnosis, and treatment","volume":"11","author":"Cunha","year":"2018","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"2025082713091054000_14.2.e235349.2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(62)90214-0"},{"key":"2025082713091054000_14.2.e235349.3","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1996.539"},{"key":"2025082713091054000_14.2.e235349.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09842-2"},{"key":"2025082713091054000_14.2.e235349.5","doi-asserted-by":"crossref","first-page":"C103","DOI":"10.1152\/ajpcell.1996.271.1.C103","article-title":"Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL","volume":"271","author":"Wang","year":"1996","journal-title":"Am J Physiol"},{"key":"2025082713091054000_14.2.e235349.6","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1972.00320010045003"},{"key":"2025082713091054000_14.2.e235349.7","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-200503000-00007"},{"key":"2025082713091054000_14.2.e235349.8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.4103\/0971-4065.179367","article-title":"Bartter's syndrome in a geriatric patient","volume":"26","author":"Kumar","year":"2016","journal-title":"Indian J Nephrol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-235349","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T20:09:16Z","timestamp":1756325356000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-235349"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2,17]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/bcr-2020-235349"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-235349","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}