Rotor Syndrome: causes, symptoms, diagnosis, treatment

Rotor Syndrome (chronic family non-hemolytic jaundice with conjugated hyperbilirubinemia and normal liver histology without unidentified pigment in hepatocytes) is hereditary in nature, transmitted autosomally recessively.

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

[1], [2], [3], [4], [5]

Symptoms of Rotor Syndrome

The first clinical signs of the syndrome of Rotor appear in childhood, often equally sick boys and girls.

The main symptoms of Rotor syndrome are as follows:

• not pronounced chronic jaundice;
• subjective signs (fatigue, pain in the right hypochondrium, bitterness in the mouth, loss of appetite) are indistinct; .
• liver of normal size, only in some patients slightly enlarged;
• the content of bilirubin in the blood is increased mainly due to the conjugated fraction;
• bilirubinuria is observed, periodically - increased excretion of urobilin with urine, darkening of urine;
• the general analysis of blood and functional tests of the liver are not changed;
• oral cholecystography gives normal results;
• after loading with bromsulfalein, there is an increased delay of the dye after 45 minutes;
• in liver biopsies a normal histological picture, pigment accumulation is not detected.

The course of the Rotor syndrome is favorable, long-term, without significant violations of the general condition. Periodically, the exacerbation of the disease under the influence of the same factors that cause an exacerbation of the Dabin-Johnson syndrome. Possible development of cholelithiasis.

Diagnosis of Rotor Syndrome

1. General analysis of blood, urine, feces.
2. Determination of urinary bilirubin, urobilin.
3. Determination of stercobilin in feces.
4. Biochemical blood test: the content of bilirubin and its fractions, cholesterol, lipoproteins, triglycerides, urea, creatinine, alanine and aspartic aminotransferases, hepatic-specific enzymes (fructose-1-phosphataldolase, ornithine carbamoyltransferase, arginase).
5. Ultrasound of the liver and biliary tract.
6. Radioisotope hepatography.
7. Bromsulfalein test. Bromsulfalein is a paint that is secreted by the liver like bilirubin. After intravenous administration, the paint is quickly captured from the blood by the liver and then more slowly released into the bile. Intravenously injected 5% sterile solution of bromsulfalein in an amount of 5 mg / kg body weight. Blood for examination is taken from the ulnar vein of the other arm in 3 and 4.5 minutes. The concentration of bromosulfalein in 3 min is taken as 100%; in relation to it, the percent of the dye remaining after 45 minutes is calculated. Normally, after 45 minutes, about 5% of the paint remains. If there is a violation of the excretory function of the liver, the percentage of the remaining ink in the blood is much greater.
8. Puncture liver biopsy with histological and histochemical examination of the biopsy specimen.
9. A blood test for serological markers of hepatitis B, C, D.

[6], [7]