Congenital chloride diarrhea in two Yemeni siblings

Abstract EN

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.