congenital chloride diarrhea

congenital chloride diarrhea
an autosomal recessive condition characterized by severe, watery diarrhea that begins in early infancy and contains an excess of chloride because of impairment of chloride-bicarbonate exchange in the lower colon. Affected infants have a distended abdomen, lethargy, and retarded growth and mental development. The condition is accompanied by alkalosis and hypokalemia, and is often associated with maternal hydramnios. Called also congenital chloridorrhea.

Medical dictionary. 2011.

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