Rotor syndrome

Rotor syndrome
Other namesRotor type hyperbilirubinemia[1]
Bilirubin
SpecialtyPediatrics, hepatology 
SymptomsJaundice

Rotor syndrome (also known as Rotor type hyperbilirubinemia)[2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive[3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin.[2]

Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome[1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.[2]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 237450
  2. ^ a b c Kumar, A; Mehta, D (2020), "article-36575", Rotor Syndrome, This book is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits use, duplication, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, a link is provided to the Creative Commons license, and any changes made are indicated., Treasure Island (FL): StatPearls Publishing, PMID 30335339, retrieved 2020-07-17
  3. ^ Wolkoff AW, Wolpert E, Pascasio FN, Arias IM (February 1976). "Rotor's syndrome. A distinct inheritable pathophysiologic entity". The American Journal of Medicine. 60 (2): 173–179. doi:10.1016/0002-9343(76)90426-5. PMID 766621.
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