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

Qian Li1,2, Jing Wang1,2, Ruixian Zang2

  • 1Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250021, P.R. China.

BMC Pediatrics
|May 4, 2024
PubMed

Insights

Congenital chloride diarrhoea (CCD) is a genetic disorder causing severe infant diarrhoea and electrolyte imbalances due to SLC26A3 gene mutations. Early consideration of CCD is crucial for infants with prolonged diarrhoea and maternal polyhydramnios.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Congenital chloride diarrhoea (CCD) is an autosomal recessive disorder.
  • It is caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene.
  • CCD leads to secretory diarrhoea and life-threatening electrolyte disturbances in infants.

Observation:

  • A 7-month-old Chinese infant presented with severe watery diarrhoea, dehydration, and electrolyte abnormalities.
  • The infant had a history of maternal polyhydramnios.
  • Genetic testing identified compound heterozygous SLC26A3 gene mutations (c.269_270dup and c.2006 C>A).

Findings:

  • The patient exhibited hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia.
  • Oral sodium and potassium chloride supplementation reduced stool frequency.
  • The identified SLC26A3 mutations are associated with CCD.

Implications:

  • CCD should be suspected in infants with persistent diarrhoea, especially with maternal polyhydramnios.
  • Prompt diagnosis and management of electrolyte imbalances are critical for infant survival.
  • Understanding SLC26A3 gene mutations aids in diagnosing and managing CCD.
Abstract

Keywords:
And hyponatraemiaChildCongenital chloride diarrhoeaHypochloraemiaHypokalaemiaMetabolic alkalosisSolute carrier family 26 member 3

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