What is pathophysiology of neonatal jaundice in unconjugated hyperbilirubinemia?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Hyperbilirubinemia may reach or exceed 10 mg/dL in approximately 16% of newborns. In a study of genetic risk factors in 35 breastfed term infants with prolonged unconjugated hyperbilirubinemia, Chang et al found that 29 of the infants had 1 or more UGT1A1 mutations, with variation at nucleotide 211 being the most common. [14] Moreover, a significantly higher percentage of these neonates possessed the variant nucleotide 211 than did the control group (n=90). The authors also found that the risk of prolonged hyperbilirubinemia was higher in the male infants than in the female neonates.

In a study involving 126 Indian infants with hyperbilirubinemia, de Silva et al found an association between single-nucleotide polymorphisms (SNPs) of both the UGT1A1 and OATP2 genes and altered bilirubin metabolism, suggesting these polymorphisms may be possible risk factors for neonatal hyperbilirubinemia. [15]


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