Dubin-Johnson syndrome (DJS), a rare benign genetic liver disorder inherited in an autosomal recessive pattern, was first described by Dubin and Johnson in 1954. This genetic disorder is caused by a defect mutation in multidrug resistance-associated protein 2 (MRP2) production, localization, or function. MRP2, comprised of 1545 amino acids, is involved in bile secretion and bilirubin transport; therefore, impaired activity of MRP2 results in jaundice and conjugated hyperbilirubinemia (Wu et al. 2020).

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Dubin-Johnson Syndrome (DJS)

  • Ali Nabavi-Rad,
  • Hamid Asadzadeh Aghdaei,
  • Abbas Yadegar

摘要

Dubin-Johnson syndrome (DJS), a rare benign genetic liver disorder inherited in an autosomal recessive pattern, was first described by Dubin and Johnson in 1954. This genetic disorder is caused by a defect mutation in multidrug resistance-associated protein 2 (MRP2) production, localization, or function. MRP2, comprised of 1545 amino acids, is involved in bile secretion and bilirubin transport; therefore, impaired activity of MRP2 results in jaundice and conjugated hyperbilirubinemia (Wu et al. 2020).