Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes

Ann Clin Biochem. 2012 Nov;49(Pt 6):609-12. doi: 10.1258/acb.2012.011279. Epub 2012 Oct 12.

Abstract

A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Dubin-Johnson syndrome. DNA sequencing using polymerase chain reaction amplification of the ABCC2 gene revealed the patient to have a compound heterozygous variant of MRP2, a molecule involved in canalicular transport of bilirubin. There was a history of jaundice since infancy.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Jaundice, Chronic Idiopathic / genetics*
  • Male
  • Middle Aged
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins / genetics*
  • Multidrug Resistance-Associated Proteins / metabolism*
  • Mutation*

Substances

  • ABCC2 protein, human
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins