韶关市新生儿G6PD缺乏的早期诊断及其防治

Early Diagnosis of G6PD Deficiency and Its Prophylaxis and Treatment in Shaoguan

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100例G6PD缺陷的高胆病程。结果本组G6PD缺陷新生儿55.0%发生了高胆;高胆91.4%于生后2～3天起病;重度高胆占29.1%,仅见于重度G6PD缺陷者;轻、中度缺陷者高胆程度轻;催产素的应用、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缺陷早期诊断的惟一途径。高胆预防措施包括产前孕母服鲁米那、维生素E;产时避免诱发因素及生后口服鲁米那,肌注维生素E,有黄疸者及早光疗。

OBJECTIVE To study the methods for early diagnosis of G6PD deficiency and prevention of hyperbiliru-binermia （HB） . METHODS With dry blood spot on the screening paper G6PD activity was measured. G6PD/6PGD ratio test of the venous blood sample was measurea.G6PD/6PGD ratio test of the venous blood sample was further performed for confirmation.The relationship between G6PD deficiency and HB was analyzed. RESULTS 55.0% of the 100 cases in this G6PD deficiency group took place HB. Jaundice was observed on 2-3 day after birth in 91.4% of the HB cases. 29.1% 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, earlyonset, 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, vitamin E by the gestational women at the prenatal stage, avoiding the factors which easy to induce HB at the delivery period, and give the newborn vitamin E, luminal and light therapy early.