Congenital chloride diarrhoea: a new genetic mutation

Congenital chloride diarrhoea.

Congenital chloride diarrhoea is an autosomal recessive disease characterized by life-long watery diarrhoea of prenatal onset with high faecal Cl- concentration. Seventy-nine patients have so far been reported. The basic defect involves the active Cl-/HCO3- exchange mechanism of the distal ileum and colon. The defect causes impaired absorption of Cl-, acidity of intestinal contents because of i...

Congenital chloride losing diarrhoea.

Congenital chloride diarrhoea

Clinical findings in 21 Finnish children with congenital chloride diarrhoea are reported. Inheritance of this disease by the autosomal recessive mode is established. All children were born 1-8 weeks prematurely. Hydramnios was present in every case and no meconium was observed; intrauterine onset of diarrhoea is thus apparent. In most cases the diarrhoea or passing of large volumes of 'urine' w...

Congenital chloride diarrhoea in a Malay child.

Congenital chloride diarrhoea is a rare disorder mainly reported in Finland. A Malay child with congenital chloride diarrhoea presenting at six months of age with watery stools from birth and failure to thrive is reported.

Congenital chloride diarrhoea in Kuwait: a clinical reappraisal.

Congenital chloride diarrhoea (CCD) is a recessively inherited disorder of chloride transport in the distal ileum and colon. Congenital chloride diarrhoea is a common metabolic disorder in Kuwait with an incidence of 1/3200. Clinical findings in 14 children with CCD are reported over a period of 4 years. Maternal polyhydramnios, abdominal distension, watery diarrhoea, and a high faecal chloride...