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Rotor Syndrome

Synonyms

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.

Prevalence

Extremely rare.

Genes

Not identified.

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 [4]. The characteristic lysosomal pigment of Dubin-Johnson syndrome is missing in Rotor syndrome. Total urinary coproporphyrin excretion is elevated, with a relative