Congenital chloride diarrhea
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Congenital chloride diarrhea?
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