Congenital chloride diarrhoea in Kuwait: A clinical reappraisal

Abstract

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 level > 90 mmol/l were the cardinal features in the neonatal period. In spite of the classical features of this disease 75 per cent of our cases were diagnosed beyond the neonatal period and all demonstrated chronic diarrhoea and failure to thrive, with hypochloraemia, hypokalaemia, and metabolic alkalosis. The practice of ultrasonic examination for pregnant women with polyhydramnios and, particularly, for those with previously affected siblings led to early identification of new cases among our population recently. The antenatal ultrasonic examination showed dilated intestinal loops which suggest CCD. The diagnosis was confirmed by a high faecal chloride level.