{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:04:29Z","timestamp":1756339469902,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,11,28]]},"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.<\/jats:p>","DOI":"10.1136\/bcr-2018-229012","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T05:05:13Z","timestamp":1576040713000},"page":"e229012","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital chloride diarrhoea"],"prefix":"10.1136","volume":"12","author":[{"given":"Aisha","family":"Sajid","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Madina Teaching Hospital, The University of Faisalabad, Faisalabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sohaib","family":"Riaz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Madina Teaching Hospital, The University of Faisalabad, Faisalabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aqsa","family":"Riaz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Madina Teaching Hospital, The University of Faisalabad, Faisalabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bisma","family":"Safdar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Madina Teaching Hospital, The University of Faisalabad, Faisalabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,12,10]]},"reference":[{"key":"2025082707392444000_12.12.e229012.1","first-page":"78","article-title":"Causes of chronic non-infectious diarrhoea in infants less than 6 months of age: rarely recognized entities","volume":"29","author":"Mushtaq","year":"2017","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"2025082707392444000_12.12.e229012.2","doi-asserted-by":"crossref","first-page":"137","DOI":"10.32677\/IJCH.2018.v05.i02.016","article-title":"Congenital chloride diarrhea: a rare cause of recurrent polyhydramnios","volume":"5","author":"Mathew","year":"2018","journal-title":"Indian J Child health"},{"key":"2025082707392444000_12.12.e229012.3","doi-asserted-by":"crossref","unstructured":"Butyrate as an effective treatment of congenital chloride diarrhea.Canani Rb, T. G. (2004 AUG; 127:2). Gastrorenterology:630\u20134.","DOI":"10.1053\/j.gastro.2004.03.071"},{"key":"2025082707392444000_12.12.e229012.4","doi-asserted-by":"crossref","unstructured":"Ghosh AK , Habermann T . Mayo clinic internal medicine Concise textbook (ISBN 978-1-4200-6749-1). Informa Healthcare, 2007: 228.","DOI":"10.1201\/b14442"},{"key":"2025082707392444000_12.12.e229012.5","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.3390\/ijms13044168","article-title":"Congenital diarrheal disorders: an updated diagnostic approach","volume":"13","author":"Terrin","year":"2012","journal-title":"Int J Mol Sci"},{"key":"2025082707392444000_12.12.e229012.6","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/j.1365-2036.2009.04197.x","article-title":"Review article: the clinical management of congenital chloride diarrhoea","volume":"31","author":"Wedenoja","year":"2010","journal-title":"Aliment Pharmacol Ther"},{"key":"2025082707392444000_12.12.e229012.7","doi-asserted-by":"crossref","unstructured":"Alzahrani AK . Congenital chloride losing diarrhea. Pediat Therapeut 2014;04.doi:10.4172\/2161-0665.1000193","DOI":"10.4172\/2161-0665.1000193"},{"key":"2025082707392444000_12.12.e229012.8","unstructured":"SLC26A3 . Genetics home reference, 2011."},{"key":"2025082707392444000_12.12.e229012.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199701093360205"},{"key":"2025082707392444000_12.12.e229012.10","first-page":"339","article-title":"Congenital chloride losing diarrhoea","volume":"64","author":"Gujrati","year":"2014","journal-title":"J Pak Med Assoc"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-229012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:39:34Z","timestamp":1756305574000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-229012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2019,12,10]]},"published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1136\/bcr-2018-229012"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-229012","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,12]]}}}