Congenital chloridorrhoea or so-called congenital alkalosis with diarrhoea

so-called congenital alkalosis with diarrhoea

EDITORIAL SYNOPSIS Observations are described in an 8-year-old boy, the fifth case to be recognized of the syndrome previously known as 'congenital alkalosis with diarrhoea'. The condition appears to result from an abnormal handling of chloride ion in the alimentary tract; the pathognomic biochemical features are an invariably high faecal concentration of chloride and liquid stools which consis...

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...

Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea.

An investigation of small intestinal electrolyte transport was performed in a subject with congenital chloridorrhoea using a constant perfusion technique. The results indicate that the diarrhoea was not due to an abnormally high rate of secretion of fluid into the duodenum, and transport of electrolytes and glucose was normal in the jejunum. In contrast there was a marked abnormality of electro...