【摘要】 目的通过新生儿葡萄糖-6-磷酸脱氢酶(G6PD)基因检测,了解厦门地区新生儿高胆红素血症患儿G6PD缺乏症发病情况,为新生儿黄疸的临床诊断及治疗提供科学依据。方法选取该院住院新生儿高胆红素血症患儿392例为研究对象,同时进行G6PD基因检测。研究组G6PD基因突变68例;对照组无G6PD基因突变324例。结果厦门地区新生儿高胆红素血症G6PD基因突变发生率17.35%,且多发生在男性。G6PD缺乏患儿血清总胆红素水平高于无G6PD缺乏患儿,差异有统计学意义(P<0.05),G6PD缺乏症新生儿黄疸出现时间与生理性黄疸重叠,易延误其就诊,而导致严重高胆红素血症和胆红素脑病。结论G6PD缺乏是新生儿高胆红素血症的重要原因,开展新生儿G6PD检测对G6PD缺乏患儿进行早发现和早治疗有重要意义。更多还原

【Abstract】 Objective To understand the prevalence of glucose 6 phosphate dehydrogenate( G6PD) deficiency among neonates with hyperbilirubinemia in Xiamen,provide a scientific basis for clinical diagnosis and treatment of neonatal jaundice by conducting G6 PD gene detection among the neonates. Methods A total of 392 hospitalized neonates with hyperbilirubinemia were selected and divided into study group( 68 neonates with G6 PD gene mutation) and control group( 324 neonates without G6 PD gene mutation) according to the results of G6 PD gene detection. Results The incidence rate of G6 PD gene mutation among the neonates with hyperbilirubinemia in Xiamen was17. 35%,most of the ill neonates were boys. The level of serum total bilirubin in neonates with G6 PD deficiency was statistically significantly higher than that in neonates without G6 PD deficiency( P<0. 05). The onset time of jaundice among the neonates with G6 PD deficiency interleaved with the onset time of physiologic jaundice,which easily led to delay in diagnosis and caused serious hyperbilirubinemia and bilirubin encephalopathy. Conclusion G6 PD deficiency is an important cause of neonatal hyperbilirubinemia,carrying out neonatal G6 PD detection is helpful for early detection and early treatment.更多还原