Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation

Pediatr Int. 2015;57(1):e11-3. doi: 10.1111/ped.12501.

Abstract

Congenital chloride diarrhea (CCD) beginning in utero is a rare autosomal recessive inherited disorder characterized by impairment of Cl(-) /HCO3 (-) exchange in an otherwise normal distal ileum and colon. Life-long secretory diarrhea is caused by mutations in solute carrier family 26, member 3, (SLC26A3), which disrupt epithelial Cl(-) /HCO3 (-) transport in the ileum and colon. Although 55 mutations in SLC26A3 have been identified throughout the world, few Japanese cases have been confirmed on genetic analysis. We report the successful treatment of a Japanese neonate with CCD caused by SLC26A3 mutation.

Keywords: SLC26A3 mutation; butyrate; congenital chloride diarrhea; proton pump inhibitor.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chloride-Bicarbonate Antiporters / genetics*
  • Chloride-Bicarbonate Antiporters / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diarrhea / congenital*
  • Diarrhea / diagnosis
  • Diarrhea / genetics
  • Diarrhea / metabolism
  • Female
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / metabolism
  • Mutation, Missense*
  • Pregnancy
  • Prenatal Diagnosis
  • Sulfate Transporters
  • Transcription Factors

Substances

  • Chloride-Bicarbonate Antiporters
  • SLC26A3 protein, human
  • Sulfate Transporters
  • Transcription Factors
  • DNA

Supplementary concepts

  • Congenital chloride diarrhea