@article{Sinha_Dalal_Sodhi_2015, title={Differentiating Gilbert Syndrome from Crigler Najjar Syndrome Type 2 by Phenobarbitone Test}, volume={35}, url={https://www.nepjol.info/index.php/JNPS/article/view/10620}, DOI={10.3126/jnps.v35i1.10620}, abstractNote={<p>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.</p><p>J Nepal Paediatr Soc 2015;35(1):82-84</p>}, number={1}, journal={Journal of Nepal Paediatric Society}, author={Sinha, R and Dalal, S and Sodhi, K}, year={2015}, month={Oct.}, pages={82–84} }