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Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border

Very high unconjugated bilirubin plasma concentrations in neonates (neonatal hyperbilirubinaemia; NH) may cause neurologic damage (kernicterus). Both increased red blood cell turn-over and immaturity of hepatic glucuronidation contribute to neonatal hyperbilirubinaemia. The incidence of NH requiring...

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Autores principales: Bancone, Germana, Gornsawun, Gornpan, Peerawaranun, Pimnara, Penpitchaporn, Penporn, Paw, Moo Kho, Poe, Day Day, Win, December, Cicelia, Naw, Mukaka, Mavuto, Archasuksan, Laypaw, Thielemans, Laurence, Nosten, Francois, White, Nicholas J., McGready, Rose, Carrara, Verena I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10021142/
https://www.ncbi.nlm.nih.gov/pubmed/36962413
http://dx.doi.org/10.1371/journal.pgph.0000475
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author Bancone, Germana
Gornsawun, Gornpan
Peerawaranun, Pimnara
Penpitchaporn, Penporn
Paw, Moo Kho
Poe, Day Day
Win, December
Cicelia, Naw
Mukaka, Mavuto
Archasuksan, Laypaw
Thielemans, Laurence
Nosten, Francois
White, Nicholas J.
McGready, Rose
Carrara, Verena I.
author_facet Bancone, Germana
Gornsawun, Gornpan
Peerawaranun, Pimnara
Penpitchaporn, Penporn
Paw, Moo Kho
Poe, Day Day
Win, December
Cicelia, Naw
Mukaka, Mavuto
Archasuksan, Laypaw
Thielemans, Laurence
Nosten, Francois
White, Nicholas J.
McGready, Rose
Carrara, Verena I.
author_sort Bancone, Germana
collection PubMed
description Very high unconjugated bilirubin plasma concentrations in neonates (neonatal hyperbilirubinaemia; NH) may cause neurologic damage (kernicterus). Both increased red blood cell turn-over and immaturity of hepatic glucuronidation contribute to neonatal hyperbilirubinaemia. The incidence of NH requiring phototherapy during the first week of life on the Thailand-Myanmar border is high (approximately 25%). On the Thailand-Myanmar border we investigated the contribution of genetic risk factors to high bilirubin levels in the first month of life in 1596 neonates enrolled in a prospective observational birth cohort study. Lower gestational age (<38 weeks), mutations in the genes encoding glucose-6-phosphate dehydrogenase (G6PD) and uridine 5′-diphospho-glucuronosyltransferase (UGT) 1A1 were identified as the main independent risk factors for NH in the first week, and for prolonged jaundice in the first month of life. Population attributable risks (PAR%) were 61.7% for lower gestational age, 22.9% for hemi or homozygous and 9.9% for heterozygous G6PD deficiency respectively, and 6.3% for UGT1A1*6 homozygosity. In neonates with an estimated gestational age ≥ 38 weeks, G6PD mutations contributed PARs of 38.1% and 23.6% for “early” (≤ 48 hours) and “late” (49–168 hours) NH respectively. For late NH, the PAR for UGT1A1*6 homozygosity was 7.7%. Maternal excess weight was also a significant risk factor for “early” NH while maternal mutations on the beta-globin gene, prolonged rupture of membranes, large haematomas and neonatal sepsis were risk factors for “late” NH. For prolonged jaundice during the first month of life, G6PD mutations and UGT1A1*6 mutation, together with lower gestational age at birth and presence of haematoma were significant risk factors. In this population, genetic factors contribute considerably to the high risk of NH. Diagnostic tools to identify G6PD deficiency at birth would facilitate early recognition of high risk cases.
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spelling pubmed-100211422023-03-17 Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border Bancone, Germana Gornsawun, Gornpan Peerawaranun, Pimnara Penpitchaporn, Penporn Paw, Moo Kho Poe, Day Day Win, December Cicelia, Naw Mukaka, Mavuto Archasuksan, Laypaw Thielemans, Laurence Nosten, Francois White, Nicholas J. McGready, Rose Carrara, Verena I. PLOS Glob Public Health Research Article Very high unconjugated bilirubin plasma concentrations in neonates (neonatal hyperbilirubinaemia; NH) may cause neurologic damage (kernicterus). Both increased red blood cell turn-over and immaturity of hepatic glucuronidation contribute to neonatal hyperbilirubinaemia. The incidence of NH requiring phototherapy during the first week of life on the Thailand-Myanmar border is high (approximately 25%). On the Thailand-Myanmar border we investigated the contribution of genetic risk factors to high bilirubin levels in the first month of life in 1596 neonates enrolled in a prospective observational birth cohort study. Lower gestational age (<38 weeks), mutations in the genes encoding glucose-6-phosphate dehydrogenase (G6PD) and uridine 5′-diphospho-glucuronosyltransferase (UGT) 1A1 were identified as the main independent risk factors for NH in the first week, and for prolonged jaundice in the first month of life. Population attributable risks (PAR%) were 61.7% for lower gestational age, 22.9% for hemi or homozygous and 9.9% for heterozygous G6PD deficiency respectively, and 6.3% for UGT1A1*6 homozygosity. In neonates with an estimated gestational age ≥ 38 weeks, G6PD mutations contributed PARs of 38.1% and 23.6% for “early” (≤ 48 hours) and “late” (49–168 hours) NH respectively. For late NH, the PAR for UGT1A1*6 homozygosity was 7.7%. Maternal excess weight was also a significant risk factor for “early” NH while maternal mutations on the beta-globin gene, prolonged rupture of membranes, large haematomas and neonatal sepsis were risk factors for “late” NH. For prolonged jaundice during the first month of life, G6PD mutations and UGT1A1*6 mutation, together with lower gestational age at birth and presence of haematoma were significant risk factors. In this population, genetic factors contribute considerably to the high risk of NH. Diagnostic tools to identify G6PD deficiency at birth would facilitate early recognition of high risk cases. Public Library of Science 2022-06-17 /pmc/articles/PMC10021142/ /pubmed/36962413 http://dx.doi.org/10.1371/journal.pgph.0000475 Text en © 2022 Bancone et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Bancone, Germana
Gornsawun, Gornpan
Peerawaranun, Pimnara
Penpitchaporn, Penporn
Paw, Moo Kho
Poe, Day Day
Win, December
Cicelia, Naw
Mukaka, Mavuto
Archasuksan, Laypaw
Thielemans, Laurence
Nosten, Francois
White, Nicholas J.
McGready, Rose
Carrara, Verena I.
Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title_full Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title_fullStr Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title_full_unstemmed Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title_short Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border
title_sort contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the thailand-myanmar border
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10021142/
https://www.ncbi.nlm.nih.gov/pubmed/36962413
http://dx.doi.org/10.1371/journal.pgph.0000475
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