Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Rotor Syndrome

  • Peter L. M. Jansen
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_1573

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 syndromeis missing in Rotor syndrome. Total urinary coproporphyrin excretion is elevated, with a relative increased proportion of...

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References

  1. 1.
    Dhumeaux D, Berthelot P (1975) Chronic hyperbilirubinemia associated with hepatic uptake and storage impairment. A new syndrome resembling that of the mutant Southdown sheep. Gastroenterology 69(4):988–993PubMedGoogle Scholar
  2. 2.
    Wolpert E, Pascasio FM, Wolkoff AW, Arias IM (1977) Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes. N Engl J Med 296(19):1099–1101PubMedGoogle Scholar
  3. 3.
    Wolkoff AW, Wolpert E, Pascasio FN, Arias IM (1976) Rotor's syndrome. A distinct inheritable pathophysiologic entity. Am J Med 60(2):173–179PubMedGoogle Scholar
  4. 4.
    Berthelot P, Dhumeaux D (1978) New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias. Gut 19(6):474–480PubMedGoogle Scholar
  5. 5.
    Jansen PL, Cuypers HT, Peters WH (1984) Quantitation of bilirubin conjugates with high-performance liquid chromatography in patients with low total serum bilirubin levels. Eur J Clin Invest 14(4):295–300PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Peter L. M. Jansen
    • 1
  1. 1.Department of Gastroenterology and HepatologyAcademic Medical CenterAmsterdamThe Netherlands