Rotor syndrome

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Rotor syndrome
Classification and external resources

ICD-10 E80.6
ICD-9 277.4
OMIM 237450
DiseasesDB 11671
MeSH D006933

Rotor syndrome, also called Rotor type hyperbilirubinemia,[1] is a rare, relatively benign autosomal recessive[2] bilirubin disorder of unknown origin. It is a distinct disorder, yet similar to Dubin–Johnson syndrome[1] — both diseases cause an increase in conjugated bilirubin.

Characteristics

Rotor syndrome has many things in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient's serum, mainly of the conjugated type.

It can be differentiated from Dubin–Johnson syndrome in the following ways:

Rotor syndrome Dubin–Johnson syndrome
appearance of liver normal histology and appearance liver has black pigmentation
gallbladder visualization gallbladder can be visualized by oral cholecystogram gallbladder cannot be visualized
total urine coproporphyrin content high with <70% being isomer 1 normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1)

Genetics

Rotor syndrome has an autosomal recessive pattern of inheritance.

Rotor syndrome is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is on an autosome, and two copies of the defective gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.

Eponym

Rotor syndrome is named after the Filipino internist, Arturo Belleza Rotor (1907–1988).[3]

See also

References

  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 237450
  2. 2.0 2.1 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): 173179. doi:10.1016/0002-9343(76)90426-5. PMID 766621. 
  3. synd/2296 at Who Named It?

External links


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