Genetic

Question 1

Alagille’s syndrome

Answer 1

features:

• characteristic facies: deep set wide eyes,
• paucity of intra-hepatic bile ducts, pointed chin, broad forehead, low set ears
• growth/mental retardation
• vertebral arch defects
• hypoglycaemia
• pulmonary stenosis

Question 2

alpha 1 antitrypsin deficiency

Answer 2

genetics: AR protease inhibitor typing

features:

• cholestasis in infancy
• cirrhosis in childhood
• COPD in adulthood

Question 3

Wilson’s disease

Answer 3

genetic: AR

pathophysiology: decreased biliary excretion of copped and impaired caeruloplasmin production

investigations:

• serum caeruloplasmin: low
• serum copper: low
• urine copper: high
• penicillamine challenge: increased execretion post chelation
• liver biopsy

treatment: penicillamine, low copper diet