GENETIC ASPECTS OF INDIRECT HYPERBILIRUBINAEMIA IN NEWBORNS

Autor:	Katja Jarc Georgiev, Manca Velkavrh
Jazyk:	slovinština
Rok vydání:	2022
Předmět:	indirect hyperbilirubinaemia conjugation haemolysis next-generation sequencing newborn Medicine Pediatrics RJ1-570
Zdroj:	Slovenska pediatrija, Vol 29, Iss 3, Pp 135-142 (2022)
Druh dokumentu:	article
ISSN:	1318-4423 2712-3960
DOI:	10.38031/slovpediatr-2022-3-03en
Popis:	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.
Databáze:	Directory of Open Access Journals
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