title: Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia.
abstract: This study analyzes the clinical features of glucose-6-phosphate dehydrogenase (G6PD) deficiency in infants with marked hyperbilirubinemia. We retrospectively assessed a cohort of 413 infants with peak total serum bilirubin (TSB) level >or=20 mg/dL from 1995 to 2007. The prevalence of G6PD deficiency was proportional to the level of peak TSB: 21.1% (81/383) in 20 mg/dL to 29.9 mg/dL, 45.5% (10/22) in 30 mg/dL to 39.9 mg/dL, and 100% (8/8) in >or=40 mg/dL. Male sex was more common in G6PD deficiency (75.8%). When compared with G6PD-normal infants, those with G6PD deficiency tended to have extreme hyperbilirubinemia (peak TSB level >or=25 mg/dL) and hemoglobin value<13 g/dL (P<0.001). Furthermore, mortality rate was significantly higher in G6PD-deficient infants (3.0%) than in the G6PD-normal counterparts (0.0%). Among 58 of the G6PD-deficient infants who were followed for more than 12 months, 4 developed the classic neurologic manifestations of kernicterus (6.6%). These findings show that G6PD deficiency is an important risk factor of extreme hyperbilirubinemia, death, and kernicterus.
authors.affiliation: Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan. yihaoweng@adm.cgmh.org.tw
authors.forename: Yi-Hao
authors.initials: YH
authors.lastname: Weng
authors.forename: Ya-Wen
authors.initials: YW
authors.lastname: Chiu
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000453:epidemiology / Q000401:mortality; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000453:epidemiology / Q000209:etiology*; D007231:Infant, Newborn; D007647:Kernicterus / Q000209:etiology; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D015996:Survival Rate