congenital secretory chloride diarrhea 1

A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome

A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31.

Signs and symptoms

• Elevated stool chloride content
• Increased circulating aldosterone concentration
• Increased circulating renin concentration
• Elevated serum bicarbonate concentration
• Hypokalemia
• Secretory diarrhea
• Polyhydramnios
• Hypochloremia
• Abdominal distention
• Failure to thrive

Also known as: congenital chloride diarrhea finnish type; congenital chloride diarrhoea finnish type; congenital chloridorrhea; congenital secretory chloride diarrhoea 1