Alternative titles and symbols : Hyperbilirubinemia, dubin-johnson type; HBLRDJ; Hyperbilirubinemia II;
Description : Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated
hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer
I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein,
but otherwise normal liver function (summary by Wada et al., 1998).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the canalicular multispecific organic anion transporter gene
(ABCC2, 601107.0001);
Laboratory abnormalities : Conjugated hyperbilirubinemia; Routine liver function tests normal; Normal serum bile acids; Characteristic urinary coproporphyrin pattern (mostly isomer I (80%) instead of isomer
III); Normal total urinary coproporphyrin; Bromosulfophthalein test - secondary rise at 90 minutes;