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

التفاصيل البيبلوغرافية
العنوان: Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border.
المؤلفون: Bancone G; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand.; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom., Gornsawun G; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Peerawaranun P; Mahidol-Oxford Tropical Medicine Research Unit (MORU), Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand., Penpitchaporn P; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Paw MK; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Poe DD; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Win D; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Cicelia N; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Mukaka M; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.; Mahidol-Oxford Tropical Medicine Research Unit (MORU), Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand., Archasuksan L; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand., Thielemans L; Neonatology-Pediatrics Department, Université Libre de Bruxelles, Bruxelles, Belgium., Nosten F; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand.; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom., White NJ; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.; Mahidol-Oxford Tropical Medicine Research Unit (MORU), Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand., McGready R; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand.; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom., Carrara VI; Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand.; Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.; Institute of Global Health, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
المصدر: PLOS global public health [PLOS Glob Public Health] 2022 Jun 17; Vol. 2 (6), pp. e0000475. Date of Electronic Publication: 2022 Jun 17 (Print Publication: 2022).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 9918283779606676 Publication Model: eCollection Cited Medium: Internet ISSN: 2767-3375 (Electronic) Linking ISSN: 27673375 NLM ISO Abbreviation: PLOS Glob Public Health Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, California : Public Library of Science, [2021]-
مستخلص: 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.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright: © 2022 Bancone et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
References: Lancet. 2004 Jan 10;363(9403):157-63. (PMID: 14726171)
Blood. 1998 Feb 1;91(3):1093. (PMID: 9446675)
Korean J Parasitol. 2018 Apr;56(2):167-173. (PMID: 29742871)
Wellcome Open Res. 2018 Jan 2;3:1. (PMID: 29552643)
Med Sci Monit. 2015 Oct 15;21:3104-14. (PMID: 26467199)
Lancet Child Adolesc Health. 2018 Aug;2(8):610-620. (PMID: 30119720)
Int J Mol Sci. 2016 Dec 09;17(12):. (PMID: 27941691)
Am J Prev Med. 2004 Apr;26(3):243-9. (PMID: 15026106)
PLoS One. 2018 May 8;13(5):e0196716. (PMID: 29738562)
Pediatr Res. 2004 Nov;56(5):682-9. (PMID: 15319464)
Acta Paediatr. 2009 Jul;98(7):1106-10. (PMID: 19397531)
Malays J Pathol. 2020 Aug;42(2):253-257. (PMID: 32860378)
J Matern Fetal Neonatal Med. 2019 Nov;32(22):3824-3829. (PMID: 29732948)
J Hum Genet. 2013 Jan;58(1):7-10. (PMID: 23014115)
PLoS One. 2015 Feb 12;10(2):e0117229. (PMID: 25675342)
J Pediatr. 2001 Jul;139(1):137-40. (PMID: 11445808)
N Engl J Med. 1995 Nov 2;333(18):1171-5. (PMID: 7565971)
Arch Dis Child. 2011 Jan;96(1):112-3. (PMID: 21030375)
J Hum Genet. 1999;44(1):22-5. (PMID: 9929972)
Pediatr Res. 2020 Jan;87(2):327-331. (PMID: 31600770)
Arch Dis Child. 1980 Jun;55(6):482-4. (PMID: 7436492)
PLoS One. 2021 Oct 7;16(10):e0258127. (PMID: 34618852)
Malar J. 2019 Jan 23;18(1):20. (PMID: 30674319)
Pediatr Rev. 2011 Aug;32(8):341-9. (PMID: 21807875)
J Pediatr. 1966 Jan;68(1):54-66. (PMID: 5901345)
Pediatr Res. 2020 Dec;88(6):940-944. (PMID: 32126570)
Hawaii J Med Public Health. 2016 Dec;75(12):373-378. (PMID: 27980881)
BMJ Paediatr Open. 2017 Nov 25;1(1):e000105. (PMID: 29637134)
BMC Pediatr. 2017 Jan 21;17(1):32. (PMID: 28109243)
Wellcome Open Res. 2017 Nov 2;2:72. (PMID: 29181452)
BMC Pregnancy Childbirth. 2021 Dec 2;21(1):802. (PMID: 34856954)
Arch Pediatr Adolesc Med. 1994 Nov;148(11):1156-62. (PMID: 7921116)
Lancet. 2008 Jan 5;371(9606):64-74. (PMID: 18177777)
Pediatrics. 2004 Jul;114(1):297-316. (PMID: 15231951)
PLoS One. 2014 Dec 23;9(12):e116063. (PMID: 25536053)
Br J Haematol. 1983 Feb;53(2):241-6. (PMID: 6821654)
Annu Rev Pharmacol Toxicol. 2000;40:581-616. (PMID: 10836148)
PLoS One. 2013 Aug 22;8(8):e72721. (PMID: 23991145)
Pediatrics. 1999 Jun;103(6 Pt 1):1224-7. (PMID: 10353933)
Arch Dis Child. 2016 Jul;101(7):614-9. (PMID: 26916539)
BMC Med Genet. 2020 Nov 6;21(1):218. (PMID: 33158427)
Scand J Clin Lab Invest. 2014 Apr;74(3):259-63. (PMID: 24460025)
PLoS One. 2021 Aug 12;16(8):e0255902. (PMID: 34383833)
J Pediatr. 2014 Jul;165(1):36-41.e1. (PMID: 24650397)
J Hum Genet. 1998;43(2):111-4. (PMID: 9621515)
Pediatr Res. 2002 Oct;52(4):601-5. (PMID: 12357057)
Biomed Res Int. 2018 Sep 12;2018:7803175. (PMID: 30298137)
Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8170-4. (PMID: 9653159)
Gene. 2020 Apr 30;736:144409. (PMID: 32007587)
معلومات مُعتمدة: United Kingdom WT_ Wellcome Trust; 106698 United Kingdom WT_ Wellcome Trust
تواريخ الأحداث: Date Created: 20230324 Latest Revision: 20240508
رمز التحديث: 20240508
مُعرف محوري في PubMed: PMC10021142
DOI: 10.1371/journal.pgph.0000475
PMID: 36962413
قاعدة البيانات: MEDLINE
الوصف
تدمد:2767-3375
DOI:10.1371/journal.pgph.0000475