congenital chloride-losing diarrhea(English)

• a rare genetic disorder due to autosomal recessive mutation in the SLC26A3 gene on chromosome 7. It is characterized with chronic watery diarrhea with high fecal chloride (Cl: >90 mmol/L), low potassium (K), and metabolic alkalosis with low urinary Cl and K. The overall long-term prognosis is favorable with optimal life-long salt and K supplementation
• Congenital disorders, Potassium, Gastroenterology, Clinical chemistry
• https://doi.org…55/2021/3558278