Congenital chloridorrhea

Congenital Chloridorrhea

Congenital chloridorrhea (CLD) is a rare genetic disorder characterized by an abnormality in the absorption of chloride ions in the intestines, leading to chronic diarrhea and electrolyte imbalances. This condition is also known as congenital chloride diarrhea.

Etiology

Congenital chloridorrhea is caused by mutations in the SLC26A3 gene, which encodes a protein involved in the exchange of chloride and bicarbonate ions in the intestinal epithelium. This defect results in the impaired absorption of chloride ions, leading to the symptoms associated with the disease.

Clinical Presentation

Patients with congenital chloridorrhea typically present with:

• Chronic diarrhea from birth
• Dehydration
• Metabolic alkalosis
• Hypokalemia

The diarrhea is often watery and voluminous, leading to significant fluid and electrolyte loss.

Diagnosis

Diagnosis of congenital chloridorrhea is based on clinical presentation, laboratory findings, and genetic testing. Key diagnostic features include:

• Elevated chloride levels in stool
• Low serum chloride levels
• Genetic testing confirming mutations in the SLC26A3 gene

Management

Management of congenital chloridorrhea focuses on correcting electrolyte imbalances and maintaining adequate hydration. Treatment strategies include:

• Oral rehydration solutions
• Electrolyte supplementation, particularly potassium and chloride
• Monitoring of growth and development

Prognosis

With appropriate management, individuals with congenital chloridorrhea can lead relatively normal lives. However, ongoing medical supervision is necessary to prevent complications related to electrolyte imbalances.

See Also

• SLC26A3
• Metabolic alkalosis
• Genetic disorders

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Congenital chloridorrhea

Congenital chloridorrhea is a rare disease.