Congenital secretory diarrhoea
Congenital chloride diarrhoea: This rare autosomal recessive condition was first described in Finland in 1945, and has most often been seen in that country.
The underlying defect is in chloride reabsorption by cells of the intestinal mucosa, associated with impaired transport of bicarbonate. The result is watery diarrhoea in utero, and polyhydramnios commonly leading to premature labour. After birth, infants become hypochloraemic, hyponatraemic, hypokalaemic and alkalotic.
A faecal chloride concentration exceeding the sum of the sodium and potassium concentrations suggests the diagnosis. The condition may also be diagnosed antenatally: ultrasound scanning may reveal gross distension of intestinal loops after about 25 weeks' gestation.
The outcome is good if potassium as well as sodium and chloride is replaced.
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