Asociere sindrom Gilbert şi deficit de glucozo-6 fosfat dehidrogenaza- cauza de hiperbilirubinemie la copil | [Interaction between Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiencycause of hyperbilirubinemia in child]

Abstract

We present a case of a boy 2 years old, diagnosed initially with unconjugated hyperbilirubinemia after one episode of dehydration. After completing laboratory tests, we detected glucose-6-phosphate dehydrogenase (G6PD) deficiency (class 2, WHO) and a positive genetic test for Gilbert syndrome (heterozygotes UGT1A1). The association between Gilbert syndrome and G6PD deficiency represents a dose-dependent genetic interaction crucial to hyperbilirubinemia.