Criggler Najjar Syndrome

CRIGGLER NAJJAR SYNDROME

• Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin due to Genetic deficiency  ot total absence of UDPG(uridine diphosphate glucuronyl) transferase.
• The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin.
• Conversion of bilirubin to a water-soluble form is essential for its elimination is achieved by glucuronic acid conjugation with bilirubin.
• Bilirubin diglucuronide is a conjugated form of bilirubin formed in bilirubin metabolism
• Bilirubin is primarily excreted in normal human bile as diglucuronide
• The disorder is inherited in an autosomal recessive manner.
• This syndrome is divided into types I and II.

TYPE I OF CRIGGLER NAJJAR SYNDROME

• This is a very rare disease and consanguinity increases the risk of this condition.
• Intense jaundice appears in the first days of life and persists thereafter.
• Type 1 is characterised by a serum bilirubin usually above 345 µmol/L 20 mg/dL .
• Bile is pale in type I .
• Conjugated bilirubin as Diglucuronide is absent in bile.
• No UDP glucuronosyltransferase 1-A1 expression can be detected in the liver tissue
• There is no response to treatment with phenobarbital.
• Kernicterus may develop.

TYPE II OF CRIGGLER NAJJAR SYNDROME

• Bilirubin levels are generally below 345 µmol/L 20 mg/dL.
• Some cases are only detected later in life.
• Bile is pigmented.
• There is a deficiency of Diglucuronide in the bile .
• UGT1A1 is present at reduced but detectable levels.
• Treatment with phenobarbital is effective.
• Kernicterus is rare in type II.

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