Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation

BMC Pediatr. 2024 May 4;24(1):305. doi: 10.1186/s12887-024-04788-x.


Introduction: Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations.

Case presentation: A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.269_270dup and c.2006 C > A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency.

Conclusions: CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.

Keywords: And hyponatraemia; Child; Congenital chloride diarrhoea; Hypochloraemia; Hypokalaemia; Metabolic alkalosis; Solute carrier family 26 member 3.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chloride-Bicarbonate Antiporters / genetics
  • Diarrhea* / congenital
  • Diarrhea* / genetics
  • East Asian People
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors* / diagnosis
  • Metabolism, Inborn Errors* / genetics
  • Mutation*
  • Polyhydramnios / genetics
  • Potassium Chloride / administration & dosage
  • Potassium Chloride / therapeutic use
  • Sulfate Transporters* / genetics


  • Chloride-Bicarbonate Antiporters
  • Potassium Chloride
  • SLC26A3 protein, human
  • Sulfate Transporters

Supplementary concepts

  • Congenital chloride diarrhea