Congenital chloride diarrhea is an autosomal recessive type of chronic diarrhea characterized by voluminous watery stool containing high levels of chloride. It can present in patients of any age from newborns to adults, but onset is most often in the first weeks to months of life. Clinically, congenital chloride diarrhea is similar to Bartter syndrome, except these patients do not have calcium dysregulation.

Patients will have a profuse watery diarrhea that occurs independent of food exposures or time of day. They will not have blood or mucus in the bowel movements in most instances. Abdominal pain is unlikely to be a hallmark complaint. Bloating and abdominal discomfort from a high frequency of bowel movements is likely.

Newborns with congenital chloridorrhea will often be born prematurely with a history of polyhydramnios, failure to thrive, growth retardation, metabolic alkalosis, dehydration, and hypokalemia. They often lack meconium and have distended abdomens.

This is a rare genetic disorder that has been described in many families of Middle Eastern ancestry, although it has been diagnosed in other populations as well. It is thought to be caused by a mutation in the SLC26A3 (solute carrier family 26, member 3) gene.