ROTOR SYNDROME Meaning and
Definition
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Rotor syndrome is a rare genetic disorder characterized by the impaired excretion of bilirubin, a yellowish pigment produced during the breakdown of red blood cells. It is named after the Swiss physician Dr. Hans Rotor, who first described the condition in 1948. Individuals with Rotor syndrome have a defect in the transport system that eliminates bilirubin from the liver, leading to its accumulation in the blood and subsequent jaundice.
The primary cause of Rotor syndrome is a genetic mutation that affects the functioning of certain liver transporters responsible for the clearance of bilirubin. This disorder is inherited in an autosomal recessive manner, which means that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the condition.
Most people affected by Rotor syndrome do not experience any symptoms or have only mild jaundice that may go unnoticed. However, in some cases, individuals may present with persistent and visible yellowing of the skin and eyes. The accumulation of bilirubin in the blood can also lead to dark-colored urine, fatigue, nausea, and abdominal discomfort.
Diagnosis of Rotor syndrome typically involves a thorough medical history, physical examination, and blood tests to assess bilirubin levels. Other liver diseases and conditions should be ruled out to confirm the diagnosis.
Although Rotor syndrome is a lifelong condition, it is generally benign and does not cause significant health complications. Treatment primarily focuses on managing symptoms, with some individuals benefiting from medications that promote the excretion of bilirubin. Regular monitoring of liver function and bilirubin levels is also recommended to ensure overall well-being.
Common Misspellings for ROTOR SYNDROME
- eotor syndrome
- dotor syndrome
- fotor syndrome
- totor syndrome
- 5otor syndrome
- 4otor syndrome
- ritor syndrome
- rktor syndrome
- rltor syndrome
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- rotir syndrome
- rotkr syndrome
Etymology of ROTOR SYNDROME
The term "Rotor Syndrome" is derived from the name of the physician who first described the condition, Dr. Arturo Belleza Rotor. Arturo Belleza Rotor was a Filipino physician and diplomat who made significant contributions to the field of gastroenterology. In the 1930s, he published a paper describing a rare condition characterized by non-obstructive enlargement of the liver, high levels of bilirubin in the blood, and mild jaundice. The condition later came to be known as "Rotor Syndrome", named after Dr. Rotor.
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