Wednesday, 9 November 2011

Congenital hyperbilirubinaemias

Unconjugated
 - Gilbert's syndrome
 - Criggler-Najjar syndrome
Conjugated
 - Dubin-Johnson syndrome
 - Rotor's syndrome

Gilbert's syndrome
- most common familial hyperbilirubinemia, 2-7% of population
- hepatic glucuronidation is 30% of normal
- reduced levels of UDP-glucuronosyl transferase (UGT-1) activity
- raised unconjugated bilirubin on fasting, and during mild illness
- bilirubin levels are reduced by enzyme inducer (eg: phenobarbitone)
- absence of bilirubin in urine(unconjugated bilirubin is tightly bound to albumin, thus cannot cross the glomerulus)

Criggler-Najjar syndrome
- very rare
- type II (autosomal dominant) - decreased UDP-GT
- type I (autosomal recessive) - absence of UDP-GT

Dubin-Johnson syndrome (autosomal recessive) & Rotor's syndrome (autosomal dominant)
- due to defects in bilirubin handling in liver
- good prognosis
- liver is black owing to melanin deposition

1 comment:


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