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Congenital chloride diarrhoea

Aisha Sajid1, Sohaib Riaz2, Aqsa Riaz2

  • 1Department of Pediatrics, Madina Teaching Hospital, The University of Faisalabad, Faisalabad, Pakistan draisha_tanvir@hotmail.com.

BMJ Case Reports
|December 13, 2019
PubMed

Insights

Congenital chloride diarrhoea is a rare genetic disorder causing infant diarrhoea. Diagnosis involves elevated stool chloride, requiring electrolyte management for recovery.

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics

Background:

  • Congenital chloride diarrhoea (CCD) is a rare autosomal recessive disorder.
  • It presents with severe, watery diarrhoea from infancy, leading to dehydration and electrolyte imbalances.

Observation:

  • A 7.5-month-old boy with a history of neonatal-onset diarrhoea and consanguineous parents presented with abdominal distension, hypotonia, and hyporeflexia.
  • Biochemical analysis revealed hypochloremic hypokalemic metabolic alkalosis with normal urinary electrolytes.

Findings:

  • Elevated stool chloride excretion confirmed the diagnosis of congenital chloride diarrhoea.
  • The patient's condition improved with intravenous fluids, electrolyte replacement, and supportive oral therapies.

Implications:

  • Early diagnosis and prompt electrolyte management are crucial for improving outcomes in congenital chloride diarrhoea.
  • This case highlights the importance of considering rare genetic disorders in infants with persistent diarrhoea and electrolyte disturbances.

Keywords:
gastrointestinal systempaediatrics (drugs and medicines)

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