Rotor syndrome

Overview

A rare condition that starts soon after birth or during childhood and is characterized by high blood bilirubin levels.

Symptoms

  • Fluctuating jaundice
  • Epigastric discomfort
  • Bilirubin in the urine

Causes

The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body.

The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.

Read more about the SLCO1B1 and SLCO1B3 genes.

Prognosis

The 'prognosis' of Rotor syndrome usually refers to the likely outcome of Rotor syndrome. The prognosis of Rotor syndrome may include the duration of Rotor syndrome, chances of complications of Rotor syndrome, probable outcomes, prospects for recovery, recovery period for Rotor syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Rotor syndrome. Naturally, such forecast issues are by their nature unpredictable.

Treatment

The liver is otherwise normal, and there is no need to treat this condition. It can be differentiated from Dubin Johnson syndrome by measuring the difference in urinary poryphrins. In Rotor syndrome there is an associated marked increase in urinary excretion of coproporyhrin I and III with < 80% being the I isomer.