Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy

Lee, W.S. and McKiernan, P.J. and Beath, S.V. and Preece, M.A. and Baty, D. and Kelly, D.A. and Burchell, B. and Clarke, D.J. (2001) Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy. Archives of disease in childhood, 85 (1). pp. 38-42. ISSN 1468-2044

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Official URL: http://adc.bmj.com/content/85/1/38.short

Abstract

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. AIM To determine whether bilirubin pigment analysis of bile in infants with prolonged unconjugated hyperbilirubinaemia provides useful diagnostic information in the first 3 months of life. METHODS Retrospective 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. RESULTS Between 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. CONCLUSIONS Early 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.

Item Type: Article
Subjects: R Medicine
R Medicine > RJ Pediatrics
Divisions: Faculty of Medicine
Depositing User: Ms Haslinda Lahuddin
Date Deposited: 16 Jul 2014 00:14
Last Modified: 16 Jul 2014 00:14
URI: http://eprints.um.edu.my/id/eprint/10925

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