diarrhoea type 1, secretory chloride, congenital
diarrhoea type 1, secretory chloride, congenitalAn 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.
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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