Congenital chloride diarrhea (CCD) is a rare, genetically determined cause of persistent, life threatening, watery diarrhea, which is characterized by excessive chloride loss in stools. CCD is an autosomal recessive disorder. Most cases have been reported in Finland and the Middle East. Gamble et al, and Darrow first described the condition in 1945. Recently, the CCD gene has been accurately located on chromosome.
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| Meconium stained amniotic fluid |
Most children with CCD are born preterm and their antenatal ultrasound usually reveal polyhydramnios with significant dilatation of the fetal intestinal loops. Postnatally, these children exhibit significant abdominal distension, profuse and watery stools, and failure to thrive. Some infants survive for several months without diagnosis but any intercurrent infection, particularly gastroenteritis, disturbing the delicate water and electrolyte balance can lead to their demise.
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| Dilated small bowel |
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| Fetal small bowel showing inflammation |
Hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis are features of the disease. High fecal chloride (>100 mmol/L), exceeding the sum of fecal sodium and potassium and a chloride-free urine confirm the diagnosis.
Since the intestinal defect cannot be corrected, life-long treatment with both sodium and potassium chloride solutions is required. With early diagnosis and adequate treatment children with CCD can achieve normal physical growth and mental development.
Video credit: Dr. Jamil Hawramy
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