Rotor syndrome
| Rotor syndrome | |
|---|---|
 |
|
| Bilirubin | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E80.6 |
| ICD-9-CM | 277.4 |
| OMIM | 237450 |
| DiseasesDB | 11671 |
| MeSH | D006933 |
Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal recessivebilirubin disorder. It is a distinct, yet similar disorder to Dubin–Johnson syndrome — both diseases cause an increase in conjugated bilirubin.
Rotor syndrome has many features 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 is inherited in an autosomal recessive manner.The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.
Liver function tests are normal. Pigmented granules are not seen in the hepatocytes of individuals with Rotor syndrome.
To treat the jaundice phenobarbital is normally used
Rotor syndrome is named after the Filipino internist, Arturo Belleza Rotor (1907–1988).
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