diarrhoea type 1, secretory chloride, congenital

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diarrhoea type 1, secretory chloride, congenital

An autosomal recessive disorder (OMIM:213700) characterised by excretion of copious watery stool with high levels of chloride, resulting in dehydration, hypokalaemia and metabolic alkalosis. Children with this disease are often premature.

Molecular pathology
Caused by defects of SLC26A3, which encodes a transmembrane glycoprotein chloride/bicarbonate exchanger essential for intestinal chloride absorption and electrolyte homeostasis.
References in periodicals archive ?
Congenital chloride diarrhoea (CLD) is an autosomal recessive disease, reported mainly in Finland.
In 1945, Darrow and Gamble described the first cases of congenital chloride diarrhoea (CLD) under the name of congenital alkalosis with diarrhoea.
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