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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
Summary
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.
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