RESUMEN
OBJECTIVE: To characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its association with neonatal hyperbilirubinemia. STUDY DESIGN: This study involved an evaluation of G6PD data for 2656 newborns from a universal newborn screening program. RESULTS: Mean G6PD activity was 14.2 ± 3.3 U/g Hb. Some 2.71% of the newborns were G6PD-deficient, and 1.77% had borderline G6PD activity, with male and female predominance, respectively. G6PD deficiency was more prevalent in newborns of Sephardic Jew and Muslim Arab backgrounds. The infants with G6PD deficiency had higher bilirubin levels at the time of discharge from the nursery. Infants with low and borderline G6PD activity were more likely to require phototherapy (22.2% and 25.5%, respectively, vs 7.6% of infants with normal G6PD activity; P < .005) and to have more referrals for exacerbation of jaundice (15.3% and 14.9%, respectively, vs 6.1%; P < .005). Mean G6PD activity was higher in preterm infants born at 27-34 weeks gestational age compared with those born later (16.3 ± 1.8 U/g Hb vs 14.8 ± 2.0 U/g Hb). Based on sex distribution and theoretical genetic calculations for the rate of heterozygous females, we propose that the range of borderline G6PD activity should be 2-10 U/g Hb rather than the currently accepted range of 2-7 U/g Hb. CONCLUSIONS: There is association between G6PD deficiency and significant neonatal hyperbilirubinemia. Increased risk is also associated with borderline G6PD activity. The suggested new range for borderline G6PD activity should enhance the identification of females at risk. G6PD activity is higher in preterm infants.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Hiperbilirrubinemia Neonatal/etiología , Árabes , Femenino , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/etnología , Humanos , Hiperbilirrubinemia Neonatal/etnología , Recién Nacido , Judíos , Masculino , Tamizaje NeonatalRESUMEN
OBJECTIVE: To test the hypothesis that a mutation in uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene of breast-fed infants is a contributory factor to prolonged unconjugated hyperbilirubinemia. STUDY DESIGN: Of 125 breast-fed term infants, 35 infants had prolonged unconjugated hyperbilirubinemia; another 90 breast-fed neonates without prolonged jaundice were control infants. The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the known variant sites (promoter area, nucleotides 211, 686, 1091, and 1456) of the UGT1A1 gene. RESULTS: Of 35 breast-fed infants with prolonged unconjugated hyperbilirubinemia, 29 had at least 1 mutation of the UGT1A1 gene. Variation at nucleotide 211 was most common. The percentages of the neonates carrying the variant nucleotide 211 were significantly different between the prolonged hyperbilirubinemia group and control neonates. Male breast-fed infants had a higher risk than female infants for prolonged hyperbilirubinemia. CONCLUSIONS: Male breast-fed neonates with a variant nucleotide 211 in UGT1A1 have a high risk for developing prolonged hyperbilirubinemia.
Asunto(s)
Pueblo Asiatico/genética , Lactancia Materna , Glucuronosiltransferasa/genética , Hiperbilirrubinemia Neonatal/etnología , Hiperbilirrubinemia Neonatal/genética , Mutación/genética , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Masculino , Factores de Riesgo , Factores Sexuales , Taiwán , Factores de TiempoRESUMEN
OBJECTIVE: To perform risk factor analysis for the prediction of hyperbilirubinemia in an African American male neonatal cohort. STUDY DESIGN: A database of 500 previously published term and near-term African American male neonates was further analyzed to determine the role of risk factors for hyperbilirubinemia. Factors studied included birth weight >/=4.0 kg, gestational age /=75(th) percentile. Hyperbilirubinemia was defined as any bilirubin value >/=95(th) percentile on the hour-of-life-specific bilirubin nomogram. RESULTS: Forty-three (8.6%) neonates developed hyperbilirubinemia. At 48 +/- 12 hours, median transcutaneous bilirubin was 8.3 mg/dL, 75(th) percentile 10.0 mg/dL, and 95(th) percentile 12.6 mg/dL. Of the risk factors, only exclusive breast-feeding, G-6-PD deficiency and predischarge bilirubin >/=75(th) percentile were significant (Adjusted Odds Ratios [95% Confidence Intervals; CI] 3.15 [1.39-7.14], P = .006; 4.96 [2.28-10.80], P = .001; and 7.47 [3.50-15.94], P < .0001, respectively). G-6-PD-deficient neonates who were also premature and breast-feeding had the highest incidence of hyperbilirubinemia (60%). CONCLUSIONS: African American male neonates may be at higher risk for hyperbilirubinemia than previously thought. Screening for G-6-PD deficiency and predischarge bilirubin determination may be useful adjuncts in hyperbilirubinemia prediction in these newborns.