Objective: Cholestatic liver disease in infancy is caused by a wide range o
f conditions. This study reviews the pattern of diagnosis of infants with c
holestasis presenting to a tertiary referral paediatric hospital in Sydney,
Australia, during a 12-year period (1985-96).
Methodology: Infants aged less than 6 months with cholestasis were identifi
ed retrospectively from hospital records and data retrieved from the medica
l records.
Results: There were 205 infants identified as having cholestatic liver dise
ase. The aetiology of the cholestasis was idiopathic in 25%, metabolic/gene
tic in 23%, and due to obstruction in 20%, parenteral nutrition in 20%, inf
ection in 9% and bile duct hypoplasia in 3%.
Conclusions: This study highlights the changing patterns of diagnosis of ch
olestatic liver disease in infants at a tertiary paediatric facility, demon
strating that up to 50% of cases are now due to genetic/metabolic diseases
or parenteral nutrition, and a high proportion are due to idiopathic diseas
e.