Rotor syndrome

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Rotor Syndrome

Rotor syndrome (pronounced: /ˈroʊ.tər ˈsɪn.droʊm/) is a rare, benign, autosomal recessive bilirubin disorder characterized by chronic, nonhemolytic, unconjugated hyperbilirubinemia with no apparent liver damage or hemolysis.

Etymology

The condition is named after the Filipino internist, Dr. Arturo Belleza Rotor, who first described the syndrome in 1948.

Definition

Rotor syndrome is a benign genetic disorder that affects the liver's ability to process bilirubin, a yellowish substance produced during the normal breakdown of red blood cells. This leads to an increase in the levels of bilirubin in the blood, a condition known as hyperbilirubinemia.

Symptoms

The main symptom of Rotor syndrome is jaundice, which is a yellowing of the skin and eyes. Other symptoms may include fatigue, abdominal pain, and dark urine. However, individuals with Rotor syndrome typically have a normal lifespan and do not experience any serious health problems related to the condition.

Diagnosis

Rotor syndrome is diagnosed based on clinical symptoms and confirmed by genetic testing. The condition is often mistaken for other liver disorders, such as Dubin-Johnson syndrome, due to similar symptoms.

Treatment

There is no specific treatment for Rotor syndrome. Management of the condition typically involves monitoring bilirubin levels and managing symptoms as needed.

Related Terms

External links

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