Rotor syndrome: causes, symptoms, diagnosis, treatment

Rotor syndrome (chronic familial non-hemolytic jaundice with conjugated hyperbilirubinemia and normal liver histology without unidentified pigment in hepatocytes) is hereditary in nature and is transmitted in an autosomal recessive manner.

The pathogenesis of Rotor syndrome is similar to the pathogenesis of Dubin-Johnson syndrome, but the defect in bilirubin excretion is less pronounced.

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Symptoms of Rotor Syndrome

The first clinical signs of Rotor syndrome appear in childhood, and boys and girls are equally affected.

The main symptoms of Rotor syndromeare:

• mild chronic jaundice;
• subjective symptoms (fatigue, pain in the right hypochondrium, bitterness in the mouth, loss of appetite) are unclear;
• the liver is of normal size, only in some patients it is slightly enlarged;
• the bilirubin content in the blood is increased mainly due to the conjugated fraction;
• bilirubinuria is observed, periodically - increased excretion of urobilin in the urine, darkening of the urine;
• general blood analysis and liver function tests are unchanged;
• Oral cholecystography gives normal results;
• after loading with bromsulfalein, an increased dye retention is observed after 45 minutes;
• Liver biopsies show a normal histological picture, no pigment accumulation is detected.

The course of Rotor syndrome is favorable, long-term, without significant disturbances of the general condition. Periodically, an exacerbation of the disease is possible under the influence of the same factors that cause an exacerbation of Dubin-Johnson syndrome. The development of gallstone disease is possible.

Diagnosis of Rotor syndrome

1. General analysis of blood, urine, feces.
2. Determination of bilirubin and urobilin levels in urine.
3. Determination of stercobilin in feces.
4. Biochemical blood test: content of bilirubin and its fractions, cholesterol, lipoproteins, triglycerides, urea, creatinine, alanine and aspartate aminotransferases, liver-specific enzymes (fructose-1-phosphate aldolase, ornithine carbamoyltransferase, arginase).
5. Ultrasound of the liver and bile ducts.
6. Radioisotope hepatography.
7. Bromsulfalein test. Bromsulfalein is a dye that is secreted by the liver like bilirubin. After intravenous administration, the dye is quickly captured from the blood by the liver and then more slowly secreted into the bile. A 5% sterile solution of bromosulfalein is administered intravenously in an amount of 5 mg/kg of body weight. Blood for the study is taken from the cubital vein of the other arm after 3 and 4.5 minutes. The bromosulfalein concentration after 3 minutes is taken as 100%; the percentage of dye remaining after 45 minutes is calculated in relation to it. Normally, about 5% of the dye remains after 45 minutes. If the excretory function of the liver is impaired, the percentage of dye remaining in the blood is significantly higher.
8. Puncture biopsy of the liver with histological and histochemical examination of the biopsy.
9. Blood test for serological markers of hepatitis B, C, D viruses.

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