Function tests should be obtained in any symptomatic child or

by 10 years of age as baseline.

2. Cystic fibrosis (CF). Cholestasis or gallstone formation can be seen. Liver disease associated with CF can progress to cirrhosis. About one quarter of patients with CF have liver involvement; therefore, all patients need screening laboratory evaluations. Treatment with ursodeoxycholic acid seems to improve cholestasis but may not influence natural progression of disease.

3. Alagille syndrome. Also known as arteriohepatic dysplasia. Liver lesion is intrahepatic bile duct hypoplasia. Has autosomal-dominant inheritance with variable penetrance. Mutations are seen in Jaggedl gene on chromosome 20. Patient has associated cardiac disease (usually peripheral pulmonic stenosis but can be any cardiac anomaly, including tetralogy of Fallot or coarctation of the aorta), vertebral anomalies (most commonly butterfly vertebrae), and retention of posterior embryotoxon on slit-lamp eye exam. Classic facial features may not be well-defined in infants but are often apparent in adult family members.

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