{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:16:30Z","timestamp":1758161790597,"version":"3.44.0"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3, which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.<\/jats:p>","DOI":"10.1055\/s-0038-1669437","type":"journal-article","created":{"date-parts":[[2018,8,25]],"date-time":"2018-08-25T18:30:40Z","timestamp":1535221840000},"page":"024-026","source":"Crossref","is-referenced-by-count":1,"title":["Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea"],"prefix":"10.53391","volume":"08","author":[{"given":"Olga","family":"Liaugaudiene","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalia","family":"Stoniene","sequence":"first","affiliation":[{"name":"Department of Neonatology, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruta","family":"Kucinskiene","sequence":"first","affiliation":[{"name":"Department of Pediatric, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Buffat","sequence":"first","affiliation":[{"name":"Laboratoire de Biologie Mol\u00e9culaire, H\u00f4pital de la Conception, Assistance Publique H\u00f4pitaux de Marseille, Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginija","family":"Asmoniene","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2018,8,25]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1669437.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:37Z","timestamp":1758138337000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1669437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,25]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2019,2,14]]},"published-print":{"date-parts":[[2019,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1669437","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2018,8,25]]}}}