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
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):988–993
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):1099–1101
Wolkoff AW, Wolpert E, Pascasio FN, Arias IM (1976) Rotor's syndrome. A distinct inheritable pathophysiologic entity. Am J Med 60(2):173–179
Berthelot P, Dhumeaux D (1978) New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias. Gut 19(6):474–480
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):295–300
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© 2009 Springer-Verlag GmbH Berlin Heidelberg
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Jansen, P.L.M. (2009). Rotor Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1573
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1573
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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