congenital secretory sodium diarrhea 8

A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.

Signs and symptoms

• Polyhydramnios
• Abdominal distention
• Elevated stool chloride content
• Secretory diarrhea
• Dependency on parenteral nutrition
• Elevated fecal sodium
• Reduced fecal osmolality
• Elevated fecal pH
• Inflammation of the large intestine
• Postnatal growth retardation

Also known as: DIAR8