ArticleTurk pediatri arsivi2020
SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea.
Article in Turk pediatri arsivi, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.Molecular genetics & genomic medicine · 2025Review
- Prenatally suspected and clinically diagnosed congenital chloride diarrhea.Radiology case reports · 2025Article
- Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.Turkish archives of pediatrics · 2022Article
- A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
Congenital 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.
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