Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Congenital sodium diarrhea

Synonym(s) Na-H exchange deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
  • P78.3
MeSH -
MedDRA -


Disease definition

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


Less than 15 patients have been described so far, including five infants born to consanguineous parents from two related families.


Transmission appears to be autosomal recessive and analysis of the intestinal brush border membrane of affected patients revealed that the condition is caused by a functional defect in one of the sodium/proton exchangers localized to the apical membrane of small intestinal epithelial cells. However, no mutations were detected in the genes encoding any of the sodium/proton exchangers identified so far (NHE1,NHE2,NHE3, and NHE5).

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.