Skip Navigation LinksHome > November 2011 - Volume 53 - Issue 5 > Nucleotide Sequence of the Na+/H+ Exchanger-8 in Patients Wi...
Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e318227ad6e
Short Communications

Nucleotide Sequence of the Na+/H+ Exchanger-8 in Patients With Congenital Sodium Diarrhea

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

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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.

Copyright 2011 by ESPGHAN and NASPGHAN


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