Autosomal recessive condition characterized by jaundice. Total bilirubin levels usually range between 1.5 and 6 mg/dL and more than one half is conjugated.
A dark pigment accumulates in the liver giving it a characteristic black color.
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 heme synthesis) aids in the diagnosis.
It is a benign condition with a normal life expectancy and no specific treatment is required.
History and exam
Anil Dhawan, MBBS, MD, FRCPCH
Professor of Paediatric Hepatology
King's College Hospital
AD declares he has no competing interests.
Tracy A.F. Coelho, MBBS, DCH, MRCPCH
Consultant Paediatric Gastroenterologist
University Hospital Southampton
TAFC declares that he has no competing interests.
John T. Jenkins, MB, CHB, FRCP
St. Mark's Hospital
JTJ declares that he has no competing interests.
Nancy Reau, MD
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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