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- Title
Differentiating Gilbert Syndrome from Crigler Najjar Syndrome Type 2 by Phenobarbitone Test.
- Authors
Sinha, R.; Dalal, S.; Sodhi, K.
- Abstract
Gilbert syndrome characterized by jaundice with intermittent elevations of indirect bilirubin, in the absence of haemolysis or underlying liver disease, has both autosomal dominant and recessive inheritance. Crigler-Najjar syndrome type II (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). We report 20 children between age 5 to 15 years with unconjugated hyperbilirubenemia who were given seven days of oral phenobarbitone (5mg/kg/day) and decrease in level of bilirubin was noted. There was only 30-40% reduction of bilirubin in Crigler Najjar Syndrome Type 2 compared to Gilberts Syndrome in which bilirubin level normalised. This case series highlights the importance of simple test to differentiate these two condition. This test is also very helpful in a place where enzyme level and mutational study cannot be done.
- Subjects
GILBERT disease; CRIGLER-Najjar syndrome; PHENOBARBITAL
- Publication
Journal of Nepal Paediatric Society, 2015, Vol 35, Issue 1, p82
- ISSN
1990-7974
- Publication type
Article
- DOI
10.3126/jnps.v35i1.10620