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Unconjugated congenital hyperbilirubinaemias Gilbert’s syndrome: Common familial hyperbilirubinaemia Affects 2-7% of the population Asymptomatic – usually detected as an incidental finding of a slightly raised bilirubin (17-102mmol/L) on a routine blood test NO signs of liver disease are seen Family history of jaundice in 5-15% of pts Most pts have reduced levels of UDP-glucuronosyl transferase activity Crigler-Najjar syndrome: Very rare Two types: Type I (autosomal recessive, absence of glucuronosyl transferase) Type II (autosomal dominant, decreased glucuronosyl transferase activity) Only those with type II can survive into adult life Transplantation is the only effective treatment |
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