Congenital chloride diarrhea is a rare condition associated with severe diarrhea starting soon after birth.


Inheritance: autosomal recessive


Gene affected: SLC26A3 (solute carrier family 26, member 3)

Chormosome: 7q31


Clinical features:

(1) The patient has a severe diarrhea that starts soon after birth.

(2) The patient is dehydrated.

(3) The diarrheal fluid is watery and high in chloride.

(4) The diarrheal fluid shows a low pH.

(5) The blood shows hypochloremic metabolic alkalosis.

(6) Urine chloride is low.

(7) No other condition explains the findings better.


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