Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn

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Published on: November 16, 2016

G Monaghan1, A McLellan, A McGeehan

  • 1Departments of Molecular and Cellular Pathology, Child Health, and Obstetrics and Gynaecology, University of Dundee, Ninewells Hospital and Medical School, Dundee, Scotland.

The Journal of Pediatrics
|April 6, 1999
PubMed

Insights

Genetic variations in the UGT1A1 gene are linked to prolonged neonatal jaundice in breast-fed infants. This predisposition is associated with Gilbert's syndrome, manifesting later in life.

Area of Science:

  • Genetics
  • Neonatology
  • Pediatrics

Background:

  • Prolonged neonatal jaundice, extending beyond 14 days, is a common clinical concern.
  • The UGT1A1 gene and its association with Gilbert's syndrome in adults are known.
  • Investigating genetic factors in neonatal jaundice is crucial for understanding its etiology.

Purpose of the Study:

  • To determine if UGT1A1 gene mutations contribute to prolonged neonatal jaundice.
  • To explore the relationship between UGT1A1 TATA promoter polymorphism and neonatal hyperbilirubinemia severity.

Main Methods:

  • Blood samples from 85 newborns with unexplained hyperbilirubinemia were analyzed.
  • UGT1A1 TATA promoter genotyping was performed on all samples.
  • Detailed UGT1A1 gene sequencing was conducted on a subset of infants with very prolonged jaundice.

Main Results:

  • A novel UGT1A1 TATA allele (TA5) was identified in an infant with very prolonged jaundice.
  • Breast-fed infants with very prolonged jaundice showed a 5-fold higher incidence of familial hyperbilirubinemia genotypes (7/7 and 5/7) compared to those with acute jaundice.
  • A significant association was found between UGT1A1 TATA genotype distributions and jaundice duration in breast-fed neonates (0.01 < P < 0.05).

Conclusions:

  • A genetic predisposition, specifically UGT1A1 TATA box polymorphism, is associated with prolonged neonatal hyperbilirubinemia in breast-fed infants.
  • This genetic factor is linked to the development of Gilbert's syndrome in adulthood.
  • Early identification of UGT1A1 variants may aid in predicting prolonged jaundice and future Gilbert's syndrome.
Abstract

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