广州地区新生儿G6PD缺乏的早期诊断及其防治  

Early Diagnosis of G6PD Deficiency and Its Prophylaxis and Treatment in Guangzhou.

作　　者：江剑辉[1] 马燮琴[1] 宋诚燕[1] 林本蘅[1] 汤雪薇[1] 

机构地区：[1]广州市妇婴医院新生儿筛查中心,广东广州510180

出　　处：《中国儿童保健杂志》2000年第5期299-301,共3页Chinese Journal of Child Health Care

摘　　要：【目的】　对新生儿筛查检出的G6PD缺陷与高胆的关系进行临床研究 ,探讨G6PD缺陷的早期诊断及其高胆的防治方法。　【方法】　用荧光斑点法对新生儿进行G6PD缺陷定性筛查 ,阳性病例用G6PD/ 6PGD比值法进一步确诊 ,临床观察本组 80例G6PD缺陷的高胆病程。　【结果】　本组G6PD缺陷新生儿 5 0 %发生了高胆 ;高胆90 %于生后 2～ 3天起病 ;重度高胆占 2 5 % ,仅见于重度G6PD缺陷者 ;轻—中度缺陷者高胆程度轻 ;催产素应用、感染、早产等因素可能诱发或加重高胆。　【结论】　G6PD缺陷者新生儿高胆发病率高、发病早、程度重、危害大 ,高胆程度与G6PD缺陷程度和诱发因素有关 ,而脐血筛查可能是G6PD缺陷早期诊断的唯一途径。高胆预防措施包括产前孕母服鲁米那、VE ;产时避免诱发因素及生后口服鲁米那 ,肌注VE 。Objective To study the methods for early diagnosis of G6PD deficiency and prevention of hyperbilirubinemia(HB). Methods With dry blood spot on the screening paper G6PD activity was measured.G6PD/6PGD ratio test of the venous blood sample was further performed for confirmation.The relationship between G6PD deficiency and HB was analyzed. Results 50% of the 80 cases in this G6PD deficiency group took place HB.Jaundice was observed on 2 3 day after birth in 90% of the HB cases. 27.5% of the HB cases were severe type. The more deficient of the G6PD activity the more severe of the HB.The other factors included using oxytocin at the birth,perinatal infection and premature would induce and accentuate HB. Conclusions It is very important to diagnose G6PD dificiency and protect from HB early,because its high incidence,early onset,severe degree were harmful to the newborn.Screening with cord blood using fluorescent spot test may be the one of the important way to diagnose G6PD deficiency at the early stage.The methods to protect from HB included taking luminal,vitaminE by the gestational women at the prenatal stage,avoiding the factors which easy to induce HB at the delivery period,and give the newborn vitaminE,luminal and light therapy early.

关 键 词：G6PD缺陷 筛查 新生儿 诊断 治疗 

分 类 号：R722.11[医药卫生—儿科]