ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea
1 Department of Pediatrics, Karabük University School of Medicine, Karabük, Turkey  
2 Department of Pediatric Gastroenterology, Karabük University School of Medicine, Karabük, Turkey  
3 Department of Pediatric Gastroenterology, Erciyes University School of Medicine, Kayseri, Turkey  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.6929
Key Words: Congenital chloride diarrhea, neonate, polyhydramnios, SCL26A3,sibling

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 congenital chloride diarrhea diagnosis is based on detecting excessive chloride in the stool (90 mmol/l). We report about the Turkish neonate with congenital chloride diarrhea whose sibling has the same disease. The newborn was born by cesarean delivery. Diarrhea, womiting and weight loss started soon after birth. She was diagnosed with congenital chloride diarrhea based on its typical clinical sign and a high concentration of stool chloride and was confirmed by genetic analysis. She was treated by means of salt supplementations and lansaprazole. Since the disease is inherited autosomal recessive, family history may play an important role in the early diagnosis.

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