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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Rotor syndrome


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
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Tests & Diagnosis


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How is Rotor syndrome diagnosed?

Rotor syndrome is diagnosed based on a collection of laboratory and clinical findings. In Rotor syndrome serum liver studies, blood count, lipids, and serum albumin are normal. The excess bilirubin in the blood is a combination of unconjugated and conjugated (conjugated bilirubin has a sugar added to it, while unconjugated bilirubin does not). Bilirubin levels tend to be between 50-100nM/l but levels over 400mN/l are possible. Oral contraceptives and pregnancy can increase hyperbilirubinemia. Liver biopsy is not necessary, but does not show abnormalities. In Rotor syndrome the total coproporphyrin excretion in urine is elevated 2 to 5 fold with 65% of cases constituting coproporphyrin I. The coproporphyrin urine excretion analysis is useful in differentiating Rotor syndrome from a similar disorder called Dubin-Johnson syndrome.[1]
Last updated: 12/17/2010

References
  1. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol. 2010 Oct;