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SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea
Erkan Doğan1, Eylem Sevinç2, Mehmet Akif Göktaş3
1Department of Child Health and Diseases, Karabük University Faculty of Medicine, Karabük, Turkey.
Insights
Congenital chloride diarrhea, a rare genetic disorder, causes excessive chloride loss in infants. Early diagnosis through stool chloride levels and genetic testing is crucial for timely salt supplementation treatment.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Congenital chloride diarrhea (CCD) is a rare inherited disorder.
- It presents with severe infantile diarrhea and excessive chloride excretion.
- Mutations in the SLC26A3 gene are the underlying cause of CCD.
Observation:
- A Turkish neonate presented with diarrhea, vomiting, and weight loss shortly after birth.
- The infant's sibling had a history of the same condition.
- Diagnosis was based on clinical signs, high stool chloride concentration, and confirmed by genetic analysis.
Findings:
- The neonate was diagnosed with congenital chloride diarrhea.
- Genetic analysis confirmed mutations in the SLC26A3 gene.
- Treatment involved salt supplementation and lansoprazole.
Implications:
- Family history is vital for early diagnosis of congenital chloride diarrhea.
- Prompt diagnosis and management are essential for infant health.
- Understanding the genetic basis aids in diagnosing and managing this rare condition.
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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