Catalog

Congenital chloride diarrhoea

No MMS code

Link to WHO Definition

Congenital chloride diarrhoea – http://id.who.int/icd/entity/606816226

This is a genetic disorder due to an autosomal recessive mutation on chromosome 7, which is the mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells. CCD causes persistent secretory diarrhoea. In a fetus, it leads to polyhydramnios and premature birth. Immediately after birth, it leads to dehydration, hypelectrolytemia, hyperbilirubinemia, abdominal distension and failure to thrive.