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

## TL;DR

A Chinese infant with severe diarrhea and electrolyte issues was found to have a rare genetic disorder caused by mutations in the SLC26A3 gene.

## Contribution

The paper reports a novel compound heterozygous SLC26A3 mutation in a Chinese infant with congenital chloride diarrhoea.

## Key findings

- The infant had a compound heterozygous SLC26A3 mutation (c.269_270dup and c.2006 C > A).
- Symptoms included severe dehydration, hypokalaemia, and metabolic alkalosis.
- Treatment with oral sodium and potassium chloride reduced stool frequency.

## Abstract

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.

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.

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.