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Slovenska pediatrija 2022; 29: 135-142

https://doi.org/10.38031/slovpediatr-2022-3-03en

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Review article

GENETIC ASPECTS OF INDIRECT HYPERBILIRUBINAEMIA IN NEWBORNS

Katja Jarc Georgiev
Osnovno zdravstvo Gorenjske, Zdravstveni dom Škofja Loka, Škofja Loka, Slovenija

Manca Velkavrh
Univerzitetni klinični center Ljubljana, Pediatrična klinika Ljubljana, Klinični oddelek za neonatologijo, Ljubljana, Slovenija

Abstract

Indirect hyperbilirubinaemia is a common finding in the neonatal period. There are numerous causes of neonatal indirect hyperbilirubinemia, from excessive bilirubin production, impaired hepatic bilirubin uptake or bilirubin conjugation and increased enterohepatic circulation. Genetic testing is increasingly used when investigations do not determine the cause of unconjugated hyperbilirubinaemia. The genetic basis of indirect hyperbilirubinaemia is broad and encompasses a large number of genes. The most commonly encountered and researched are haemolytic causes of hyperbilirubinaemia and disorders of bilirubin conjugation. Recently, however, there is growing evidence of gene polymorphism as a cause of unconjugated hyperbilirubinaemia in the neonatal period.

Key words: indirect hyperbilirubinaemia, conjugation, haemolysis, next-generation sequencing, newborn