Congenital chloride diarrhea

Congenital chloride diarrhea (CCD) is a rare genetic disorder characterized by a lifelong condition of large, watery diarrhea with a high concentration of chloride. It is caused by mutations in the SLC26A3 gene.

Symptoms

The main symptom of CCD is a large volume of watery diarrhea, starting in the neonatal period. Other symptoms may include dehydration, metabolic alkalosis, and hypokalemia.

Causes

CCD is caused by mutations in the SLC26A3 gene. This gene provides instructions for making a protein that is found primarily in the cells lining the intestine, where it transports chloride ions from the cells into the intestine. Mutations in the SLC26A3 gene disrupt the protein's ability to transport chloride ions, leading to the symptoms of CCD.

Diagnosis

Diagnosis of CCD is based on the clinical symptoms, a high concentration of chloride in the stool, and genetic testing to identify mutations in the SLC26A3 gene.

Treatment

Treatment for CCD involves lifelong supplementation with sodium chloride and potassium chloride to replace the lost electrolytes. In some cases, medications to slow down the movement of the intestines may also be used.

Prognosis

With appropriate treatment, individuals with CCD can lead normal lives. However, they must continue their treatment regimen throughout their lives to manage their symptoms.

See also

• SLC26A3
• Diarrhea
• Genetic disorder

References

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