Which of the following is true about Criggler Najar type 1?
Impaired bilirubin conjugation occurs in three genetic conditions: Crigler-Najjar syndrome types I and II and Gilbe's syndrome. Crigler-Najjar type I is an exceptionally rare condition found in neonates and characterized by severe jaundice (bilirubin >342 mmol/L ) and neurologic impairment due to kernicterus, frequently leading to death in infancy or childhood.These patients have a complete absence of bilirubin UDPGT activity and are totally unable to conjugate bilirubin, and hence cannot excrete it.Crigler-Najjar type II is somewhat more common than type I. Patients live into adulthood with serum bilirubin levels of 103-428 mmol/L (6-25 mg/dL).In these patients, mutations in the bilirubin UDPGT gene cause the reduction--but not the complete eradication--of the enzyme's activity. Bilirubin UDPGT activity can be induced by the administration of phenobarbital, which can reduce serum bilirubin levels in these patients.Ref: Harrison; 19th edition; Page no: 282
Less severe than type 2
Phenobarbitone improves bilirubin by 25%
Bile is colourless
Phototherapy is main stay of treatment
Nutrition