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

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.

journal_name

Ann Clin Biochem

authors

Devgun MS,El-Nujumi AM,O'Dowd GJ,Barbu V,Poupon R

doi

10.1258/acb.2012.011279

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

609-12

issue

Pt 6

eissn

0004-5632

issn

1758-1001

pii

acb.2012.011279

journal_volume

49

pub_type

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