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Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

Roberto Berni Canani1, Gianluca Terrin, Ausilia Elce

  • 1Department of Translational Medical Science - Pediatric Section, and European Laboratory for the Investigation of Food Induced Diseases, University of Naples, "Federico II" Via S, Pansini, 5 80131 Naples, Italy. berni@unina.it.

Orphanet Journal of Rare Diseases
|December 20, 2013
PubMed

Insights

Oral butyrate shows variable efficacy in treating congenital chloride diarrhea (CLD), a condition caused by SLC26A3 gene mutations. The therapeutic response depends on the patient's specific genotype, influencing chloride transporter expression.

Area of Science:

  • Genetics and Molecular Biology
  • Gastroenterology
  • Pediatrics

Background:

  • Congenital chloride diarrhea (CLD) is a severe, inherited disorder causing intestinal chloride malabsorption due to mutations in the solute carrier family 26, member 3 (SLC26A3) gene.
  • Current therapies for CLD are insufficient to manage severe diarrhea, and the effectiveness of oral butyrate remains debated.

Purpose of the Study:

  • To investigate the therapeutic effect of oral butyrate in children with congenital chloride diarrhea (CLD).
  • To determine if the efficacy of butyrate treatment is influenced by the patient's SLC26A3 genotype.
  • To assess butyrate's impact on the expression of key chloride transporters in CLD patients.

Main Methods:

  • Oral butyrate (100 mg/kg/day) was administered to seven children with CLD and varying SLC26A3 genotypes.
  • Nasal epithelial cells were collected to analyze the expression of down regulated in adenoma exchanger (DRA) and putative anion transporter-1 (PAT-1) following butyrate treatment.

Main Results:

  • Clinical responses to oral butyrate varied among CLD patients, affecting stool patterns and fecal ion loss.
  • Patients with missense and deletion mutations in the SLC26A3 gene showed the best response to butyrate.
  • Butyrate administration resulted in variable modulation of DRA (SLC26A3) and PAT-1 (SLC26A6) gene expression in nasal epithelial cells.

Conclusions:

  • The therapeutic efficacy of oral butyrate in CLD is dependent on the patient's specific genetic mutation.
  • Butyrate's effect is partly mediated by differential modulation of apical membrane chloride exchangers, including DRA and PAT-1, within the SLC26 anion transporter family.
Abstract

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