Article
Bile bilirubin pigment analysis in disorders of bilirubin
metabolism in early infancy
W S Leea, P J McKiernana, S V Beatha, M A Preeceb, D Batyc, D A Kellya, B Burchellc, D J Clarked
a Liver
Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham
B4 6NH, UK, b Biochemistry Unit, Birmingham
Children's Hospital, c Department of Molecular and Cellular Pathology,
Ninewells Hospital and Medical School, Dundee, Scotland, UK, d Division
of Biological Science, University of Huddersfield, Queensgate,
Huddersfield, UK
Correspondence to: Dr McKiernan email: pat.mckiernan{at}bhamchildrens.wmids.nhs.uk
Accepted 20 February
2001
BACKGROUND
Early and
accurate diagnosis of Crigler-Najjar syndrome, which causes prolonged
unconjugated hyperbilirubinaemia in infancy, is important, as
orthotopic liver transplantation is the definitive treatment.
AIMTo determine
whether bilirubin pigment analysis of bile in infants with prolonged
unconjugated hyperbilirubinaemia provides useful diagnostic
information in the first 3 months of life.
METHODSRetrospective
review of patients with prolonged unconjugated hyperbilirubinaemia
referred to the liver unit, Birmingham Children's Hospital, for the
diagnosis of Crigler-Najjar syndrome. Bile bilirubin pigment
composition was determined by high performance liquid chromatography.
Initial diagnoses were made based on the result of bile bilirubin
pigment composition. Final diagnoses were made after reviewing
the clinical course, response to phenobarbitone, repeat bile
bilirubin pigment composition analysis, and genetic studies.
RESULTSBetween 1992 and 1999, nine infants aged less than 3 months of age with prolonged
hyperbilirubinaemia underwent bile bilirubin pigment analyses. Based on
these, two children were diagnosed with Crigler-Najjar syndrome (CNS)
type 1, six with CNS type 2, and one with Gilbert's syndrome. Five
children whose initial diagnosis was CNS type 2 had resolution of
jaundice and normalisation of serum bilirubin after discontinuing
phenobarbitone, and these cases were thought to be normal or to have
Gilbert's syndrome. One of the initial cases of CNS type 1 responded
to phenobarbitone with an 80% reduction in serum bilirubin consistent
with CNS type 2. In all, the diagnoses of six cases needed to be reviewed.
CONCLUSIONSEarly bile
pigment analysis, performed during the first 3 months of life, often
shows high levels of unconjugated bilirubin or bilirubin
monoconjugates, leading to the incorrect diagnosis of both type 1 and
type 2 Crigler-Najjar syndrome.
Keywords: bile; bilirubin pigment analysis; Crigler-Najjar syndrome; Gilbert's syndrome
© 2001 by Archives of Disease in Childhood
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Arch. Dis. Child. 2001 85: 317.[Extract] [Full Text]
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