Definition and clinical description
This is an abnormality in the active transfer of bile salts into the ileum, related to mutations in the gene encoding the bile salt dependent Na + transporter. Diarrhoea is due to both lipid malabsorption (low bile pool) and colitis associated with bile salt malabsorption.
Symptoms and prevalence
The diarrhoea begins during the neonatal period, it is abundant but improves if feeding ceases, and is accompanied by fatty stools. Weight- and growth-retardation set in quickly. The intestinal lining and pancreatic functions are normal.
Diagnostic method
Diagnosis is based on measuring low plasma and urinary concentrations of bile salts. An improvement is observed on cholestyramine, but diarrhoea still persists.
Management and treatment
Management is based on a fat-free diet and cholestyramine, fat-soluble vitamins and essential fatty acids.
Genetic counselling
The mode of inheritance is autosomal and recessive.