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Congenital chloride diarrhoea is a genetic disorder causing lifelong watery diarrhea. Early diagnosis and oral salt replacement therapy are crucial for survival and normal development.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Context:
- Congenital chloride diarrhoea (CCD) is a rare autosomal recessive disorder.
- Characterized by prenatal onset of severe, watery diarrhoea with high fecal chloride.
- Affects the Cl-/HCO3- exchange mechanism in the distal ileum and colon.
Purpose:
- To describe the pathophysiology, diagnosis, and management of congenital chloride diarrhoea.
- To highlight the importance of early and adequate treatment for patient outcomes.
Summary:
- The defective Cl-/HCO3- exchange impairs chloride and sodium absorption, leading to dehydration, electrolyte imbalances, and metabolic alkalosis.
- Intrauterine diarrhoea can cause hydramnios and premature birth.
- Diagnosis is confirmed by fecal chloride concentration >90 mmol/L post-correction.
- Treatment involves aggressive oral replacement of fecal losses (Cl-, Na+, K+, water).
Impact:
- Adequate treatment prevents life-threatening dehydration, electrolyte disturbances, and kidney pathology.
- Normal growth, development, and social adjustment are achievable with proper management.
- Lifelong oral electrolyte and fluid replacement is necessary, but patients can lead normal lives.
Abstract:
Congenital chloride diarrhoea is an autosomal recessive disease characterized by life-long watery diarrhoea of prenatal onset with high faecal Cl- concentration. Seventy-nine patients have so far been reported. The basic defect involves the active Cl-/HCO3- exchange mechanism of the distal ileum and colon. The defect causes impaired absorption of Cl-, acidity of intestinal contents because of impaired excretion of HCO3-, and, secondarily, impaired Na+ absorption. Intra-uterine diarrhoea leads to hydramnios and often to premature birth. Unless adequately treated, most patients will die of hypo-electrolytaemic dehydration within the 1st few months of life. Some infants will survive in such a state, with severe alkalosis, hypochloraemia, hypokalaemia, and retarded growth and development. Their plasma renin and aldosterone concentrations will become grossly elevated, and pathological changes will develop in the kidneys. The diagnosis is established when faecal Cl- concentration exceeds 90 mmol/l after water and electrolyte deficits have been corrected. Congenital chloride diarrhoea should be treated with full oral replacement of the faecal losses of Cl-, Na+, K+, and water. This therapy will abolish all the secondary disorders, provide for normal growth and development, and prevent renal disease. Though this therapy does not abolish the diarrhoea, most children will become toilet trained at a normal age, their social adjustment will be unimpaired, and they will live a perfectly normal life.