Rotor syndrome

Rotor syndrome is a rare autosomal recessive genetic disorder characterized by chronic jaundice due to conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome but lacks the liver pigmentation seen in that condition.

Etiology

Rotor syndrome is caused by mutations in the SLCO1B1 and SLCO1B3 genes, which encode for organic anion transporting polypeptides (OATPs) involved in the hepatic uptake of bilirubin. These mutations lead to impaired hepatic uptake and excretion of conjugated bilirubin, resulting in its accumulation in the blood.

Pathophysiology

In Rotor syndrome, the defective function of OATPs results in the inability of the liver to efficiently uptake conjugated bilirubin from the blood. Unlike Dubin-Johnson syndrome, where there is a defect in the excretion of bilirubin into the bile, Rotor syndrome primarily involves impaired uptake. This leads to an increase in serum levels of conjugated bilirubin, causing jaundice.

Clinical Presentation

Patients with Rotor syndrome typically present with mild, chronic jaundice that may be noticed in infancy or childhood. The jaundice is usually not associated with other symptoms, and patients generally have normal liver function tests except for elevated levels of conjugated bilirubin.

Diagnosis

The diagnosis of Rotor syndrome is primarily based on clinical presentation and laboratory findings. Key diagnostic features include:

• Elevated serum levels of conjugated bilirubin.
• Normal liver function tests except for hyperbilirubinemia.
• Absence of liver pigmentation on liver biopsy, which helps differentiate it from Dubin-Johnson syndrome.

Genetic testing can confirm mutations in the SLCO1B1 and SLCO1B3 genes, supporting the diagnosis.

Management

There is no specific treatment for Rotor syndrome, as it is a benign condition. Management focuses on monitoring and addressing any symptoms that may arise. Patients are advised to avoid factors that may exacerbate jaundice, such as certain medications or dehydration.

Prognosis

The prognosis for individuals with Rotor syndrome is excellent. The condition is benign and does not lead to liver damage or other complications. Patients can lead normal lives with regular monitoring.

Epidemiology

Rotor syndrome is a rare condition, with only a few hundred cases reported worldwide. It affects both males and females equally and is found in various ethnic groups.

History

Rotor syndrome was first described in 1948 by B. Rotor and colleagues, who identified the condition as a distinct form of familial conjugated hyperbilirubinemia.

See also

• Dubin-Johnson syndrome
• Gilbert's syndrome
• Crigler-Najjar syndrome

External links

• Genetic and Rare Diseases Information Center