Congenital diarrhea 7 with exudative enteropathy
Congenital diarrhea 7 with exudative enteropathy
Definition
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Also known as congenital chronic diarrhea with exudative enteropathy, congenital chronic diarrhea with protein-losing enteropathy, congenital diarrhea caused by mutation in DGAT1, congenital diarrhoea caused by mutation in DGAT1, DGAT1 congenital diarrhea, DGAT1 congenital diarrhoea, diarrhea 7, protein-losing enteropathy type, diarrhea type 7, diarrhoea 7, protein-losing enteropathy type, diarrhoea type 7 — per MONDO