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Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia.
Pediatr Res. 2018 08; 84(2):228-232.PR

Abstract

BACKGROUND

Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association.

METHODS

In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia or symptoms of ABE. Extreme neonatal hyperbilirubinemia was defined as maximum total serum bilirubin (TSBmax)) level ≥450 µmol/L and a ratio of conjugated serum bilirubin/TSB <0.30.

RESULTS

We identified 21 children with galactosemia (incidence:1:48,000). Seven children developed extreme neonatal hyperbilirubinemia (median [range] TSBmax level: 491 [456-756] µmol/L), accounting for 1.7% of all extreme neonatal hyperbilirubinemia cases. During the first 10 days of life, hyperbilirubinemia was predominantly of unconjugated type. Four children developed symptoms of intermediate/advanced ABE. One additional child had symptoms of intermediate/advanced ABE without having extreme neonatal hyperbilirubinemia. On follow-up, one child had KSD.

CONCLUSIONS

Galactosemia is a potential cause of extreme neonatal hyperbilirubinemia, ABE, and KSD. It is crucial that putative galactosemic children are treated aggressively with phototherapy to prevent ABE and KSD. Thus it is important that galactosemia is part of the work up for unconjugated hyperbilirubinemia.

Authors+Show Affiliations

Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark. laurafbech@hotmail.com.Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark. Department of Clinical Medicine, Aalborg University Hospital, Aalborg, Denmark.Center of Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Juliane Marie Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark. Department of Clinical Medicine, Aalborg University Hospital, Aalborg, Denmark.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29892033

Citation

Bech, Laura F., et al. "Extreme Neonatal Hyperbilirubinemia, Acute Bilirubin Encephalopathy, and Kernicterus Spectrum Disorder in Children With Galactosemia." Pediatric Research, vol. 84, no. 2, 2018, pp. 228-232.
Bech LF, Donneborg ML, Lund AM, et al. Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. Pediatr Res. 2018;84(2):228-232.
Bech, L. F., Donneborg, M. L., Lund, A. M., & Ebbesen, F. (2018). Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. Pediatric Research, 84(2), 228-232. https://doi.org/10.1038/s41390-018-0066-0
Bech LF, et al. Extreme Neonatal Hyperbilirubinemia, Acute Bilirubin Encephalopathy, and Kernicterus Spectrum Disorder in Children With Galactosemia. Pediatr Res. 2018;84(2):228-232. PubMed PMID: 29892033.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. AU - Bech,Laura F, AU - Donneborg,Mette Line, AU - Lund,Allan M, AU - Ebbesen,Finn, Y1 - 2018/05/31/ PY - 2018/03/27/received PY - 2018/05/10/accepted PY - 2018/6/13/pubmed PY - 2019/10/23/medline PY - 2018/6/13/entrez SP - 228 EP - 232 JF - Pediatric research JO - Pediatr. Res. VL - 84 IS - 2 N2 - BACKGROUND: Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association. METHODS: In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia or symptoms of ABE. Extreme neonatal hyperbilirubinemia was defined as maximum total serum bilirubin (TSBmax)) level ≥450 µmol/L and a ratio of conjugated serum bilirubin/TSB <0.30. RESULTS: We identified 21 children with galactosemia (incidence:1:48,000). Seven children developed extreme neonatal hyperbilirubinemia (median [range] TSBmax level: 491 [456-756] µmol/L), accounting for 1.7% of all extreme neonatal hyperbilirubinemia cases. During the first 10 days of life, hyperbilirubinemia was predominantly of unconjugated type. Four children developed symptoms of intermediate/advanced ABE. One additional child had symptoms of intermediate/advanced ABE without having extreme neonatal hyperbilirubinemia. On follow-up, one child had KSD. CONCLUSIONS: Galactosemia is a potential cause of extreme neonatal hyperbilirubinemia, ABE, and KSD. It is crucial that putative galactosemic children are treated aggressively with phototherapy to prevent ABE and KSD. Thus it is important that galactosemia is part of the work up for unconjugated hyperbilirubinemia. SN - 1530-0447 UR - https://wwww.unboundmedicine.com/medline/citation/29892033/Extreme_neonatal_hyperbilirubinemia_acute_bilirubin_encephalopathy_and_kernicterus_spectrum_disorder_in_children_with_galactosemia_ L2 - http://dx.doi.org/10.1038/s41390-018-0066-0 DB - PRIME DP - Unbound Medicine ER -