Sample for Rotor’s Syndrome
- The serum of the patient is needed.
- A urine sample can be used.
Precautions for Rotor’s Syndrome
- Avoid the hemolyzed sample.
- Avoid lipemic serum.
- Avoid serum from the light.
- Avoid urine from exposure to light.
Pathophysiology of Rotor’s Syndrome
- 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 in the excretion of bilirubin from hepatocytes into the canalicular bile lumen.
- This causes defective:
- Excretion of conjugated bilirubin.
- It’s reabsorption into the blood.
- Excretion in the urine.
- The difference between 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 of Rotor’s Syndrome
- 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.
|Signs and symptoms||Rotor’s syndrome||Dubin-Johnson syndrome|
|Age at onset of jaundice||
|Signs and symptoms||
|Mechanism of rotor’s syndrome||
|BSP (Impaired excretion of dye)||
Diagnosis of Rotor’s Syndrome
- 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.
Treatment of Rotor’s Syndrome
- This is a benign disease, and no active intervention is needed unless another cause of liver disease exists.
How will you describe different types of inherited jaundice?
|Clinical parameters||Unconjugated Hyperbilirubinemia||Conjugated Hyperbilirubinemia|
|Gilbert’s disease||Type 1 Criggler-Najjar||Type II Criggler-Najjar syndrome||Rotor’s syndrome||Dubon-Jhonson syndrome|
|Inherited mode||Autosomal dominant||Autosomal recessive||Autosomal dominant||Autosomal recessive||Autosomal recessive|
|Incidence||<7% of the population||Very rare||Uncommon||Rare||Uncommon|
|Age at onset||In adolescence||In infancy||
|Pathogenesis||Glucoronyl transferase enzyme deficiency (GTE)||GTE decreased||Marked decrease||Impaired conj. bilirubin excretion||Impaired cong. bilirubin excretion|
||Mainly indirect||Mainly indirect||
||Asymptomatic jaundice in young adults||Asymptomatic jaundice|
|Effect of phenobarbitone||Decreased to normal||There is no effect||Marked decrease||—–||—–|
|BSP (Dye excretion) test||May be mildly impaired in <40% of cases||It is absent||_____||Positive, Initial rapid fall and then rise in 40 to 90 minutes||Positive, Slow clearance and no rise|
|Oral cholecyctography||Normal||Normal||Normal||Normal||GB usually not visualized|
|Liver biopsy||Normal||—-||—-||No pigments||Characteristic pigments|
|Treatment||Not needed||There is no treatment||Not needed|
Questions and answers:
Question 1: What is the main difference between Rotor's syndrome and Dubin Johnson syndrome?
In case of Dubin Johnson syndrome on cholecyctography gallbladder is not visualized while in Rotor's syndrome, it is seen.
Question 2: What is the treatment of Rotor's syndrome?
Rotor's syndrome is a benign disease, and no active treatment is needed.