Clinical and Laboratory Spectrum of Dubin-Johnson Syndrome: A Case Report

Introduction

Dubin Johnson syndrome , (DJS) also known as black liver disease, is a rare disease which is autosomal recessive inherited pattern. It is a benign liver disease, which is characterized by conjugated hyperbilirubinemia and recurrent jaundice. The underlying mechanism is a mutation of the ABCC2 gene (1), The first case of Dubin-Johnson syndrome was diagnosed in 1954 by Dubin and Johnson. Case study: A 12year5monthold female presented with an acute febrile illness associated with sore throat and otalgia. Laboratory evaluation demonstrated isolated conjugated hyperbilirubinemia (total bilirubin 2.2mg/dl, direct bilirubin 2.06mg/dl) with mild hepatomegaly on ultrasonography. Extensive investigation excluded infectious, inflammatory, structural, and obstructive hepatobiliary disorders. Despite resolution of the febrile illness and normalization of inflammatory markers, conjugated hyperbilirubinemia persisted prompting further evaluation for hereditary disorders of bilirubin metabolism.