Publication: Differentiating Gilbert Syndrome from Crigler Najjar Syndrome Type 2 by Phenobarbitone Test
Date
2015
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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 conditions. This test is also very helpful in a place where enzyme level and mutational study cannot be done.
Description
R Sinha
Department of Pediatrics, Military Hospital Jodhpu
S Dalal
Department of Paediatrics, AFMC Pune
K Sodhi
Department of Paediatrics, Command Hospital, Chandigarh
Keywords
Gilberts, Crigler Najjar, hyperbilirubinemia