Autosomal-recessive condition characterized by a predominantly conjugated hyperbilirubinemia.
Patients are generally asymptomatic and jaundice may be an incidental finding.
More than 50% of the serum bilirubin is conjugated and bilirubinuria is typically present.
Symptomatically similar to Dubin-Johnson syndrome but the liver is histologically normal.
A benign condition with a normal life expectancy, and no specific therapy is required.
History and exam
Key diagnostic factors
- dark-colored urine
Other diagnostic factors
- abdominal pain
- glucose-6-phosphate dehydrogenase deficiency
1st investigations to order
- serum total bilirubin
- serum conjugated bilirubin
- urinary bilirubin
- serum aminotransferases, alkaline phosphatase, and gamma-GT
- absolute reticulocyte count
- blood smear
- plasma haptoglobin
Investigations to consider
- serum bile acids (total)
- urinary coproporphyrins
- liver biopsy
- ultrasound of the liver and biliary tree
- oral cholecystogram
- cholescintigraphy with 99mTc-HIDA
- molecular genetic testing
- sulphobromophthalein (BSP) plasma retention test
Tracy A.F. Coelho, MBBS, DCH, MRCPCH
Consultant Paediatric Gastroenterologist
University Hospital Southampton
TAFC declares that he has no competing interests.
Anil Dhawan, MBBS, MD, FRCPCH
Professor of Paediatric Hepatology
King's College Hospital
AD 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.
William A. Petri, Jr., MD, PhD, FACP
Chief and Professor of Medicine
Division of Infectious Diseases and International Health
University of Virginia Health System
WAP 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.
James Neuberger, BM, BCh
Queen Elizabeth Hospital
JN declares that he has no competing interests.
- Dubin-Johnson syndrome
- Gilbert syndrome
- Crigler-Najjar syndrome (type I and II)
- ACG clinical guideline: evaluation of abnormal liver chemistries
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