Congenital chloride diarrhea in two yemeni siblings

ABSTRACT

Congenital chloride diarrhea [CCD] is a rare disorder caused by a genetic defect in the chloride/bicarbonate exchange in the ileum and colon which manifests as a neonatal secretory diarrhea with electrolytes imbalance and predispose to long-term complications. The disease is highly prevalent in the Arabian Peninsula. We report two Yemeni siblings with CCD. Family history was significant with two deaths at 3 months of age. Polyhydramnios, antenatal dilated bowels, prematurity and neonatal onset of watery diarrhea were found in both infants. As a result of inadequate electrolytes supplementation, both children had growth development retardation and one developed a chronic renal disease at 6 years of age