Nucleotide sequence of the Na +/H + exchanger-8 in patients with congenital sodium diarrhea

Michel Baum, Martin G. Martin, Ian W. Booth, Christer Holmberg, Katherine Twombley, Qiuyu Zhang, Jyothsna Gattineni, Orson Moe

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Sodium absorption by the intestine is mediated by brush border Na/H exchangers, which include the NHE3 and NHE8 isoforms. We demonstrated a maturational decrease in NHE8 and increase in NHE3 in mouse intestine mRNA abundance and brush border membrane protein abundance, indicating a developmental switch of isoforms. Congenital sodium diarrhea is a rare autosomal recessive disorder characterized by polyhydramnios, hyponatremia, metabolic acidosis, and diarrhea with a high sodium content. Previous studies using intestinal brush border membrane vesicles from patients with this disorder have demonstrated a decrease in Na/H exchanger activity. Because some patients with congenital sodium diarrhea improve with age and knowing the developmental switch from NHE8 to NHE3, NHE8 may be a candidate gene for this disorder. We sequenced NHE8 from 5 patients with this disorder and found no disease-causing homozygous mutations. Although brush border membrane Na/H exchange activity may be decreased, exonic mutations in NHE8 cannot account for this disorder in these subjects.

Original languageEnglish (US)
Pages (from-to)474-477
Number of pages4
JournalJournal of pediatric gastroenterology and nutrition
Volume53
Issue number5
DOIs
StatePublished - Nov 1 2011

Keywords

  • Congenital diarrhea
  • Intestine
  • Na /H exchanger

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology

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