Congenital chloride diarrhea
ORPHA:53689· ICD-10 P78.3
Definition
A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal