congenital malabsorptive diarrhea 4

A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.

Signs and symptoms

• Malabsorption
• Enteric anendocrinosis
• Abnormality of the liver
• Failure to thrive
• Hyperchloremic metabolic acidosis
• Dehydration
• Sepsis
• Macrovesicular hepatic steatosis
• Fat malabsorption
• Vomiting

Also known as: congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency; congenital malabsorptive diarrhoea 4; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; enteric anendocrinosis