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Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation
Markus-Johann Dechant1, Satu Wedenoja, Pia Höglund
1Department of General Pediatrics and Neonatology, University Children's Hospital, Giessen, Germany. markus.dechant@uniklinik-freiburg.de
Insights
Congenital chloride diarrhoea (CLD) is a rare genetic disorder causing chronic diarrhea. Genetic testing identified a mutation in the SLC26A3 gene, confirming the diagnosis in a newborn with electrolyte imbalances.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Gastroenterology
- Rare Diseases
Background:
- Congenital chloride diarrhoea (CLD) is an autosomal recessive disorder characterized by chronic secretory diarrhea.
- Patients with CLD require lifelong salt replacement therapy due to electrolyte disturbances.
- The condition is rare, necessitating detailed case reports for better understanding.
Observation:
- This report details a male newborn from consanguineous parents diagnosed with CLD.
- The infant presented with frequent watery diarrhea and electrolyte disturbances starting on the 8th day of life.
Findings:
- Molecular analysis revealed a homozygous mutation in the solute carrier family 26 member A3 gene (SLC26A3).
- This genetic finding confirmed the clinical diagnosis of CLD in the presented case.
Implications:
- The observed clinical course suggests a potentially later onset of persistent signs in some CLD cases.
- These findings underscore the necessity for vigilant follow-up and monitoring when CLD is suspected.
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.
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