Congenital chloride diarrhoea (CCD) Is a recessively inherited disorde
r of chloride transport in the distal ileum and colon. Congenital chlo
ride diarrhoea is a common metabolic disorder in Kuwait with an incide
nce of 1/3200. Clinical findings in 14 children with CCD are reported
over a period of 4 years. Maternal polyhydramnios, abdominal distensio
n, watery diarrhoea, and a high faecal chloride level > 90 mmol/l were
the cardinal features in the neonatal period. In spite of the classic
al features of this disease 75 per cent of our cases were diagnosed be
yond the neonatal period and all demonstrated chronic diarrhoea and fa
ilure to thrive, with hypochloraemia, hypokalaemia, and metabolic alka
losis, The practice of ultrasonic examination for pregnant women with
polyhydramnios and, particularly, for those with previously affected s
iblings led to early identification of new cases among our population
recently. The antenatal ultrasonic examination showed dilated intestin
al loops which suggest CCD, The diagnosis was confirmed by a high faec
al chloride level.