Congenital Sodium Diarrhea (CSD)

 

Mechanism: defective jejunal brush border sodium/proton exchange

Form	Malformations	Mutation
syndromic	anal or choanal atresia, hypertelorism, corneal defect	SPINT2
classic	none

 

Inheritance: some autosomal recessive, some sporadic

 

Clinical features:

(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