Rotor syndrome
Oxford Dictionary of Biochemistry:
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Rotor syndrome
a rare autosomal recessive benign predominantly conjugated hyperbilirubinemia. Unlike Dubin—Johnson syndrome it shows no liver pigmentation. A defect (of unknown nature) in canalicular multiorganic anion transporter (cMOAT) is thought to be responsible. [After Arturo Belleza Rotor (1907 — 88), Philippine physician.]
| Rot value, Rossmann fold, Rop | |
| Rp, Rrp, Rs |
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Rotor syndrome
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| Rotor syndrome | |
|---|---|
| Classification and external resources | |
 Bilirubin |
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| 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.
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Contents
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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 | DJS | |
| 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 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
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 237450
- ^ a b 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.
- ^ synd/2296 at Who Named It?
External links
- Hyperbilirubinemia, Conjugated at eMedicine
- Rotor syndrome at NIH's Office of Rare Diseases
- Mentioned in MedlinePlus Encyclopedia Jaundice - yellow skin
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Oxford Dictionary of Biochemistry
Oxford University Press. Oxford Dictionary of Biochemistry and Molecular Biology © 1997, 2000, 2006 All rights reserved.
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