Familial nonhemolytic conjugated hyperbilirubinemia with normal liver histology
Definition and Characteristics
Autosomal recessive disease with elevated conjugated and unconjugated bilirubin serum levels (50-100 μmol/l) without other liver function abnormalities. Normal liver histology. Total urinary coproporphyrin excretion is elevated.
Molecular and Systemic Pathophysiology
Kinetic analysis of intravenous sulfobromophthalein disappearance curves has suggested that this disease is caused by defective storage and/or hepatic uptake of the dye and not by defective hepatic secretion [2,3]. Since serum bilirubin is partly conjugated, defective storage after conjugation, with reflux of the conjugate to the serum is the more likely mechanism . The characteristic lysosomal pigment of Dubin-Johnson syndrome is missing in Rotor syndrome. Total urinary coproporphyrin excretion is elevated, with a relative