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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Specialty: Gastroenterology
