Kaplan M, Hammerman C
Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.
J Perinatol. 2009 Feb;29 Suppl 1:S46-52. doi: 10.1038/jp.2008.216.
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an important cause of severe neonatal hyperbilirubinemia, and is overrepresented, even in countries with a low overall incidence of the enzyme deficiency, in the etiology of kernicterus. Neonatal screening for G-6-PD deficiency before discharge from the birth hospitalization should be instrumental in increasing parental and medical caretaker awareness of the high-risk nature of an infant, thereby effecting earlier referral of hyperbilirubinemic neonates for medical evaluation and treatment. The need for global screening, timing of screening, and the pros and cons of biochemical versus molecular DNA screening were discussed at the Newborn Jaundice and Kernicterus Meeting in Siena. The participants agreed that there was a need to expand neonatal G-6-PD screening globally and that screening results should be obtained before the infants' discharge from birth hospitalization.
葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏是导致严重新生儿高胆红素血症的重要原因,在核黄疸的病因中所占比例过高,即便在该酶缺乏总体发病率较低的国家也是如此。在出生医院出院前对新生儿进行G-6-PD缺乏筛查,应有助于提高父母及医护人员对婴儿高风险性质的认识,从而使高胆红素血症新生儿能更早地被转诊以接受医学评估和治疗。锡耶纳新生儿黄疸和核黄疸会议讨论了全球筛查的必要性、筛查时机以及生化筛查与分子DNA筛查的利弊。与会者一致认为,有必要在全球范围内扩大新生儿G-6-PD筛查,且应在婴儿出生医院出院前获得筛查结果。