Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation.

UNLABELLED

Congenital chloride diarrhoea (CLD) is a rare autosomal recessive disease with chronic secretory diarrhoea and a need for lifelong salt replacement therapy. We describe a male newborn of consanguineous parents with CLD. Postnatally, frequent watery diarrhoea and electrolyte disturbances were noted from the day 8 of his life. At molecular level, a homozygous mutation was detected in the solute carrier family 26 member A3 gene (SLC26A3), confirming the clinical diagnosis of CLD.

CONCLUSION

The relatively late onset of persistent clinical and laboratory signs may demonstrate a new clinical course of CLD. These findings support the need of a tight follow-up and monitoring if such a diagnosis is considered.