Clinical features of Dubin-Johnson syndrome

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disease caused by deficiency of the canalicular multi-specific organic anionic transporter (CMOAT) protein.The consequent impairment of conjugated bilirubin secretion into the bile results in hyperbilirubinemia, and the manifestation is black pigment depositing in liver cells under microscope and black liver from macroscopy.However, DJS appears to be a benign disease and no specific treatment has been developed.Misdiagnosis of DJS is common and patients frequently experience repeated visits to physicians during which they undergo a battery of unnecessary clinical testing.This situation may be further complicated by concomitant diseases, which are only recently being recognized and may be the primary etiology or a promoting factor for the patient's prolonged jaundice.Moreover, the patients who tend to present to clinic during middle and old age which is the rare morbidity age can be easily misdiagnosed.As the disease can be easily ignored.In this review, we summarize the known information regarding DJS pathogenesis, clinical characteristics, and diagnostic methods in order to improve physicians' awareness of the disease.