2009
DOI: 10.1136/bcr.04.2009.1775
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Congenital cataract and congenital chloride diarrhoea--a unique combination and antenatal diagnosis

Abstract: Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and known DRA (down regulated in adenomas) in the distal ileum and colon. Polyhydramnios, premature birth, ileus without meconium passage, hypochloremia, and hyponatremia are typical features of CCD in the neonate followed … Show more

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