Dubin Johnson Syndrome is a rare, genetic liver disorder characterized by impaired bilirubin metabolism. Bilirubin is a yellow pigment produced when red blood cells break down. In individuals with this syndrome, a specific protein called multidrug resistance protein-2 (MRP2) is unable to transport bilirubin into bile, resulting in its accumulation in the liver.
The main characteristic of Dubin Johnson Syndrome is the persistent elevation of bilirubin levels in the blood, a condition known as hyperbilirubinemia. Consequently, affected individuals often present with jaundice, which is the yellowing of the skin and eyes.
Besides the typical symptoms, Dubin Johnson Syndrome is considered a benign condition, usually not leading to severe liver damage or impairment of liver function. In fact, individuals with this condition often exhibit normal liver enzyme levels. Liver biopsy is the definitive diagnostic tool, as it reveals the presence of darkly pigmented granules within the hepatocytes, which are liver cells.
Although the exact cause of Dubin Johnson Syndrome is not fully understood, it is inherited as an autosomal recessive trait, meaning that both copies of the responsible gene must be altered for the syndrome to develop. Genetic mutations in the ABCC2 gene, which encodes the MRP2 protein, have been identified as the primary genetic cause of Dubin Johnson Syndrome.
Treatment of Dubin Johnson Syndrome typically focuses on managing symptoms, as the liver function itself is usually preserved. Regular monitoring of liver function and bilirubin levels is essential. Certain medications, such as phenobarbital, may be used to stimulate the excretion of bilirubin from the liver.
