Final answer:
Dubin-Johnson syndrome is an inherited disorder characterized by an increase in serum-conjugated bilirubin due to mutations in the ABCC2 gene, which affects the liver's ability to secrete bilirubin properly. While it often presents with jaundice, it does not usually impair liver function and is typically benign.
Step-by-step explanation:
Dubin-Johnson syndrome is a rare, inherited disorder that causes an increase in serum-conjugated bilirubin without elevation of liver enzymes. This condition does not typically impair liver function, and patients often present with jaundice. It is characterized by the liver's inability to properly secrete certain organic anions, including bilirubin, into the bile.
The disorder is caused by mutations in the ABCC2 gene, which encodes a protein known as multidrug resistance-associated protein 2 (MRP2). This protein is essential for the transport of bilirubin and other organic anions across the hepatocyte canalicular membrane. Symptoms often first appear in adolescence or early adulthood, though they can arise at any age and are typically mild, with jaundice being the main sign.
Treatment for Dubin-Johnson syndrome is not usually required as it does not lead to liver damage and is a benign condition. Diagnosis is made through laboratory tests, imaging studies, and sometimes liver biopsy, but the distinctive dark liver seen upon gross examination is primarily a postmortem finding. Genetic counseling may be offered to individuals with the syndrome who wish to start a family, as it is an autosomal recessive condition.