Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson Syndrome

Inherited Disorders of Bilirubin Transport and Conjugation: New Insights Into Molecular Mechanisms and Consequences

“…Interestingly, a patient with mutations in both the UGT1A1 promoter and in ABCC2 (the bilirubin canalicular transporter gene) was found to have a phenotype corresponding to GS/Dubin-Johnson syndrome, 42 illustrating the genetic complexity of these disorders.…”

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2

“…Finally, it results in lower glucuronidation causing unconjugated hyperbilirubinemia with the total serum bilirubin 420 μmol/l and usually o80 μmol/l. 12,13 Dual hereditary jaundice, a compound defect of bilirubin conjugation (GS) and transport (DJS), was first described by Cebecauerova et al 14 Biochemical characteristics of dual hereditary jaundice correspond to predominant defect of bilirubin glucuronides transport, including conjugated and total bilirubin (TBi) elevation, and urinary coproporphyrin isomer I increase as mentioned above.…”

ADME Pharmacogenomics in Drug Development

“…DubinJohnson syndrome (DJS) is a rare, benign, predominantly conjugated hyperbilirubinemia, characterized by impaired secretion of anionic conjugates from hepatocytes into bile. DJS is associated with over a dozen various genetic variants of MRP2 gene (ABCC2), which result in partial or complete loss of the transporter activity (Cebecauerova et al, 2005). Furthermore, recent studies showed that interindividual variability in the serum bilirubin level is also affected by genetic polymorphism in the SLCO1B1 gene, encoding hepatic uptake transporter OATP1B1 (Zhang et al, 2007b;Johnson et al, 2009).…”