Congenital chloride diarrhea (DIAR1) is a rare autosomal recessive disorder associated with the inability of the intestine to properly absorb electrolytes, particularly chloride, causing dehydration and metabolic acidosis. DIAR1 can manifest prenatally and the clinical features include abdominal distension, visible peristalsis, polyhydramnios, reduced blood electrolytes, increased blood bilirubin levels, failure to thrive, lack of meconium in newborns, premature birth, watery diarrhea, hyperaldosteronism, hypokalemia, hyponatremia, high chloride levels in stool and high rennin levels in the blood.
Congenital chloride diarrhea (DIAR1) is linked to mutations in the SLC26A3 (solute carrier family 26, member 3) gene located on chromosome 7.