Congenital Sodium Diarrhea (CSD) is a rare cause of diarrhea that starts early and is life-long.
Mechanism: defective jejunal brush border sodium/proton exchange
anal or choanal atresia, hypertelorism, corneal defect
Inheritance: some autosomal recessive, some sporadic
(1) persistent watery diarrhea starting as neonate or in early infancy
(2) severe metabolic acidosis
(3) high concentrations of sodium and bicarbonate in the feces
(4) serum hyponatremia
(5) absence of alternative explanations
(6) partial to complete villous atrophy in small bowel biopsy
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