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Congenital chloride diarrhea misdiagnosed as Bartter syndrome

Odül Eğrıtaş1, Buket Dalgiç, Satu Wedenoja

  • 1Department of Pediatric Gastroenterology, Gazi University, School of Medicine, Ankara, Turkey. odulmd2003@yahoo.com

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|August 2, 2011
PubMed

Insights

Congenital chloride diarrhea, a rare genetic disorder, causes severe dehydration and electrolyte imbalance in infants. Early diagnosis is crucial, as it can be mistaken for other conditions like Bartter syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Congenital chloride diarrhea (CCD) is an autosomal recessive disorder.
  • It is the most common secretory diarrhea in infants with normal intestinal mucosa.
  • CCD is characterized by dehydration and hypochloremic metabolic alkalosis.

Observation:

  • The defective gene, SLC26A3, encodes a chloride-bicarbonate exchanger crucial for intestinal function.
  • High incidence reported in Finnish and Arabic populations.
  • Similar electrolyte disturbances can occur in Bartter syndrome, cystic fibrosis, and pyloric stenosis.

Findings:

  • Diagnosis confirmed by fecal chloride concentration >90 mmol/L.
  • This case highlights a patient misdiagnosed with Bartter syndrome until 20 months of age.
  • Delayed diagnosis can result from overlapping symptoms with other neonatal electrolyte disorders.

Implications:

  • Emphasizes the need for high clinical suspicion for CCD in infants with unexplained diarrhea and electrolyte abnormalities.
  • Accurate diagnostic methods, like fecal chloride measurement, are vital for timely intervention.
  • Understanding genetic defects aids in differentiating CCD from similar conditions, improving patient outcomes.

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