SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea

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dc.contributor.authorDogan, Erkan
dc.contributor.authorSevinc, Eylem
dc.contributor.authorGoktas, Mehmet Akif
dc.contributor.authorEkmen, Sadrettin
dc.contributor.authorYildiz, Nihal
dc.date.accessioned2024-09-29T16:09:45Z
dc.date.available2024-09-29T16:09:45Z
dc.date.issued2020
dc.departmentKarabük Üniversitesien_US
dc.description.abstractCongenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and failure to thrive. The diagnosis of congenital chloride diarrhea is based on detecting excessive chloride in the stool (90 mmol/L). We report a Turkish neonate with congenital chloride diarrhea whose sibling had the same disease. The newborn was born by cesarean delivery. Diarrhea, vomiting, and weight loss started soon after birth. She was diagnosed as having congenital chloride diarrhea based on its typical clinical signs and a high concentration of stool chloride and was confirmed by genetic analysis. She was treated by means of salt supplementations and lansoprazole. Family history may play an important role in the early diagnosis because the disease is inherited autosomal recessively.en_US
dc.identifier.doi10.5152/TurkPediatriArs.2018.6929
dc.identifier.endpage78en_US
dc.identifier.issn1306-0015
dc.identifier.issn1308-6278
dc.identifier.issue1en_US
dc.identifier.pmid32231454en_US
dc.identifier.scopus2-s2.0-85081606817en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage76en_US
dc.identifier.trdizinid353659en_US
dc.identifier.urihttps://doi.org/10.5152/TurkPediatriArs.2018.6929
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/353659
dc.identifier.urihttps://hdl.handle.net/20.500.14619/7735
dc.identifier.volume55en_US
dc.identifier.wosWOS:000547378300012en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Pediatrics Assocen_US
dc.relation.ispartofTurk Pediatri Arsivi-Turkish Archives of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenital chloride diarrheaen_US
dc.subjectneonateen_US
dc.subjectpolyhydramniosen_US
dc.subjectSCL26A3en_US
dc.subjectsiblingen_US
dc.titleSLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrheaen_US
dc.typeArticleen_US

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