Congenital Chloride Diarrhea

Congenital Chloride Diarrhea in Dizygotic Twins

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and me...

Renal abnormalities in congenital chloride diarrhea.

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride (>90 mmol/l). We report 3 patients with CLD associated with various renal abnormalities including ...

Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/ HCO3exchanger in the ileum and the colon. Its main features are profuse watery diarrhea, high fecal chloride concentration, and failure to thrive. Profuse watery diarrhea characterized by a high concentration of chloride in stools...

Congenital chloride diarrhea: a review of twelve Arabian children

BACKGROUND Congenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride. OBJECTIVE To spotlight the common presentation of CCD for early management and prevention of complications. SUBJECTS AND METHODS This is a retrospective case series ...

Genomic and Expression Analysis of the Congenital Chloride Diarrhea Gene