{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:42Z","timestamp":1756425822861,"version":"3.44.0"},"reference-count":24,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,22]]},"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>A 30+6\/7-week infant was born by vaginal delivery to a 21-year-old primigravida with pregnancy complicated by polyhydramnios. The infant developed polyuria and significant weight loss in the first 2\u2009weeks of life despite appropriate fluid management. He developed hyponatraemia, hypochloraemia, transient hyperkalaemia and prerenal azotaemia with metabolic acidosis. On further evaluation, he had elevated plasma renin and aldosterone levels. Bartter syndrome was considered in the differential diagnosis. Bartter syndrome gene panel revealed a rare compound heterozygous mutation in exon 2 of the KCNJ1 gene (Lys186Glu\/Thr71Met), suggesting antenatal Bartter syndrome (type 2). The infant developed late-onset hypokalaemia and metabolic alkalosis by week 4 of life. He regained birth weight by week 3 of life but failed to thrive (10\u201320\u2009g\/kg\/day) despite high caloric intake (140 kcal\/kg\/day). His electrolyte abnormalities gradually improved, and he was discharged home without the need for electrolyte supplements or medications.<\/jats:p>","DOI":"10.1136\/bcr-2021-244685","type":"journal-article","created":{"date-parts":[[2021,10,18]],"date-time":"2021-10-18T17:41:36Z","timestamp":1634578896000},"page":"e244685","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6604-2391","authenticated-orcid":false,"given":"Srinivasan","family":"Mani","sequence":"first","affiliation":[{"name":"Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayasree","family":"Nair","sequence":"additional","affiliation":[{"name":"Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepali","family":"Handa","sequence":"additional","affiliation":[{"name":"Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,10,18]]},"reference":[{"key":"2025082802131478000_14.10.e244685.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2014.10.002"},{"key":"2025082802131478000_14.10.e244685.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-183"},{"key":"2025082802131478000_14.10.e244685.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-152"},{"key":"2025082802131478000_14.10.e244685.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng752"},{"key":"2025082802131478000_14.10.e244685.5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1507629"},{"key":"2025082802131478000_14.10.e244685.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.17"},{"key":"2025082802131478000_14.10.e244685.7","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn689"},{"key":"2025082802131478000_14.10.e244685.8","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000016738","article-title":"A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: case report","volume":"98","author":"Li","year":"2019","journal-title":"Medicine"},{"key":"2025082802131478000_14.10.e244685.9","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ejmg.2011.12.006","article-title":"Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance","volume":"55","author":"Mammen","year":"2012","journal-title":"Eur J Med Genet"},{"key":"2025082802131478000_14.10.e244685.10","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050688"},{"key":"2025082802131478000_14.10.e244685.11","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(62)90214-0"},{"key":"2025082802131478000_14.10.e244685.12","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.100"},{"key":"2025082802131478000_14.10.e244685.13","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2021-242086","article-title":"Type 3 antenatal Bartter syndrome presenting with mild polyuria","volume":"14","author":"Otsubo","year":"2021","journal-title":"BMJ Case Rep"},{"key":"2025082802131478000_14.10.e244685.14","doi-asserted-by":"crossref","unstructured":"Meyer M , Berrios M , Lo C . 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