- The serum of the patient is needed.
- The urine sample can be used.
- Avoid the hemolyzed sample.
- Avoid lipemic serum.
- Avoid serum from the light.
- Avoid urine from exposure to light.
- This is a rare, relatively benign (mild) autosomal recessive disease of the liver.
- This is similar to Dubin-Johnson syndrome and both lead to increase conjugated (direct) bilirubin.
- There is an impairment of excretion of bilirubin from hepatocytes into the bile canalicular lumen.
- This causes defective:
- Excretion of conjugated bilirubin.
- It’s reabsorption into the blood.
- Excretion in the urine.
- The difference of Rotor’s syndrome from the Dubin-Johnson syndrome is:
- There is no hepatic pigmentation.
- Oral Cholecystography also differentiates which is normal in this condition.
- Ultrasound shows no abnormality.
- Liver biopsy shows no pigmentation.
Signs and symptoms
- This disease is usually seen in infancy or childhood.
- There is chronic jaundice without any evidence of hemolysis.
- Sometimes these patients may have intermittent epigastric discomfort and abdominal pain.
- There may be an attack of fever.
- There is jaundice with increased conjugated bilirubinemia.
- Liver biopsy is normal in histology.
- The gallbladder can be visualized by cholecystography. This differentiates it from Dubin-Johnson syndrome.
- This is a benign disease and no active intervention needed unless there is some other cause of liver disease.