Byler’s
disease is a progressive familial intrahepatic cholestasis
liver condition (autosomal recessive) initially seen in
infants less than six months of age.
Signs and Symptoms:
Jaundice, itching
anorexia/poor
feeding, nausea/vomiting
Fatigue/lethargy
- pruritis/irritability
Growth
retardation
Unremitting
leading to progressive biliary cirrhosis
Diagnosis:
Blood Test to know the levels
of bilirubin and aminotransferases
anorexia/poor
feeding, nausea/vomiting
Fatigue/lethargy
- pruritis/irritability
Treatment:
Nutritional
support which includes: modular feed, carbohydrate, protein,
fat and fat soluble vitamin A, E, K, D.
The use of
partial bile drainage using cholecystostomy with an interposed
jejunal segment to the skin is of advantage in reducing the
enterohepatic circulation of bile acids interrupting the
natural history of the disease, reducing its complications and
preventing the need for early transplantation in many
patients.
