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Development of icterus gravis in a preterm infant with G71R UGT1A1 polymorphism

Akimune Kaga1, Yukimune Ohkubo, Yohei Watanabe

  • 1Department of Pediatrics, Hachinohe City Hospital, 1 Bisyamontaira, Hachinohe, Aomori, 031-8555, Japan. kagakimune@yahoo.co.jp

BMC Research Notes
|February 8, 2013
PubMed

Insights

The G71R polymorphism in the UGT1A1 gene is linked to severe jaundice in very low birth weight infants (VLBWIs). This finding highlights the need for careful monitoring and management of jaundice in these vulnerable infants.

Area of Science:

  • Genetics
  • Neonatology
  • Pharmacogenomics

Background:

  • The UGT1A1 gene is crucial for bilirubin conjugation in the liver; deficiencies cause jaundice.
  • Gilbert's syndrome is linked to UGT1A1 polymorphisms like G71R, typically seen in term infants.
  • The G71R polymorphism's role in jaundice in very low birth weight infants (VLBWIs) remained unstudied.

Observation:

  • A preterm infant (28 weeks, 1172g) developed severe jaundice (total bilirubin 23.7 mg/dL) on day 21.
  • Genetic analysis revealed the infant was heterozygous for the G71R polymorphism in the UGT1A1 gene.
  • Other causes of jaundice, including blood incompatibility and metabolic disorders, were ruled out.

Findings:

  • The G71R polymorphism was identified in a VLBWI presenting with severe jaundice.
  • This suggests reduced UGT1A1 activity in the infant, contributing to hyperbilirubinemia.
  • Breastfeeding and medications were speculated as potential triggers for jaundice in this infant.

Implications:

  • The G71R polymorphism may be present in VLBWIs, increasing their risk for severe jaundice.
  • This necessitates vigilant monitoring for jaundice in VLBWIs carrying this genetic variant.
  • Early identification and management of severe jaundice are critical for improved outcomes in preterm infants.
Abstract

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