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Congenital sodium diarrhea

Orpha number ORPHA103908
Synonym(s) Na-H exchange deficiency
Prevalence <1 / 1 000 000
Inheritance -
Age of onset -
ICD-10
  • P78.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 18805001

Summary

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).


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