Autosomal recessive condition characterised by jaundice. Total bilirubin levels usually range between 25.7 and 102.6 micromol/L (1.5 and 6 mg/dL), and more than one half of the total bilirubin is conjugated.
A dark pigment accumulates in the liver, giving it a characteristic black colour.
Primary defect is a mutation in an apical canalicular membrane protein responsible for excretion of bilirubin.
Jaundice is worsened by an intercurrent illness, pregnancy, and oral contraceptives.
A unique pattern of urinary excretion of coproporphyrins (by-products of haem synthesis) aids in the diagnosis.
It is a benign condition with a normal life expectancy and no specific treatment required.
Professor of Paediatric Hepatology
King's College Hospital
AD declares he has no competing interests.
Royal Alexandra Children's Hospital
TAFC declares that he has no competing interests.
St. Mark's Hospital
JTJ declares that he has no competing interests.
Assistant Professor of Medicine
University of Chicago
Center for Liver Disease
NR has received reimbursement for speaking for Gilead, maker of Viread and Hepsera, and BMS, maker of Baraclude.
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