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.
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Congenital chloride diarrhoea (CLD) is an autosomal recessive disease, reported mainly in Finland.The infrequency with which it is encountered makes its diagnosis a challenge.
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