{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T00:13:34Z","timestamp":1793924014863,"version":"4.8.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T00:00:00Z","timestamp":1639958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the <jats:italic>SLC26A3<\/jats:italic> gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in <jats:italic>SLC26A3<\/jats:italic> are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the <jats:italic>SLC26A3<\/jats:italic> gene was confirmed using genetic testing.<\/jats:p>","DOI":"10.3389\/fped.2021.758006","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T07:06:56Z","timestamp":1639984016000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report"],"prefix":"10.3389","volume":"9","author":[{"given":"Izabela","family":"Cendal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Szafra\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Patkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Kr\u00f3lak-Olejnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,20]]},"reference":[{"key":"B1","volume-title":"Long-term outcome and extraintestinal manifestations in congenital chloride diarrhea","author":"Wedenoja","year":"2007"},{"key":"B2","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1097\/MPG.0b013e31820bc856","article-title":"Significance of molecular testing for congenital chloride diarrhea","volume":"53","author":"Lechner","year":"2011","journal-title":"J Pediatr Gastroenterol Nutr."},{"key":"B3","doi-asserted-by":"publisher","first-page":"e15928","DOI":"10.1097\/MD.0000000000015928","article-title":"Congenital chloride losing diarrhea: a single center experience in a highly consanguineous population","volume":"98","author":"Kamal","year":"2019","journal-title":"Medicine (Baltimore)."},{"key":"B4","unstructured":"Chloride Diarrhoea\n            VernonHJ\n          2020"},{"key":"B5","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1038\/jp.2012.42","article-title":"Congenital chloride diarrhea presenting in newborn as a rare cause of meconium 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Siles."},{"key":"B9","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s12887-019-1390-1","article-title":"Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report","volume":"19","author":"D\u00e1vid","year":"2019","journal-title":"BMC Pediatr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s12881-020-01023-z","article-title":"Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes","volume":"21","author":"Lindberg","year":"2020","journal-title":"BMC Med Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1186\/s12887-020-1999-0","article-title":"A case of severe malnutrition infant with neonatal onset intractable diarrhea","volume":"20","author":"Fang","year":"2020","journal-title":"BMC Pediatr."},{"key":"B12","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1097\/01.mpg.0000214161.37574.9a","article-title":"Long-term clinical outcome in patients with congenital chloride diarrhea","volume":"42","author":"Hihnala","year":"2006","journal-title":"J Pediatr Gastroenterol Nutr."},{"key":"B13","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1038\/s41390-020-01251-2","article-title":"Congenital chloride diarrhea clinical features and management: a systematic review","volume":"90","author":"Di Meglio","year":"2021","journal-title":"Pediatr Res."},{"key":"B14","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1086\/301998","article-title":"genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait","volume":"63","author":"H\u00f6glund","year":"1998","journal-title":"Am J Hum Genet."},{"key":"B15","doi-asserted-by":"publisher","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":"B16","first-page":"214","article-title":"Captopril in congenital chloride diarrhoea: a case study","volume":"33","author":"Bin Islam","year":"2015","journal-title":"J Health Popul Nutr."}],"container-title":["Frontiers in 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