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目的了解粤北地区新生儿葡萄糖6磷酸脱氢酶(G6PD)缺乏症的发生率和G6PD缺乏症的基因突变类型,以及G6PD缺乏症与病理性黄疸的相关性。方法对本院2014年5月~2015年5月共740例新生儿进行G6PD缺乏症筛查,结合黄疸指数监测进行对比分析。95例有病理性黄疸的婴儿行G6PD缺乏症基因检测。结果本市新生G6PD缺乏症筛查发生率4.46%,男婴发生率6.30%,女婴发生率2.51%;G6PD正常新生儿病理性黄疸发生率8.77%,G6PD缺乏症新生儿病理性黄疸发生率33.3%。G6PD缺乏症基因携带发生率5.41%。结论 G6PD缺乏症是新生儿病理性黄疸发生的重要原因,对新生儿进行G6PD筛查及G6PD缺乏症基因检测,有助于指导干预新生儿病理性黄疸。
Objective To understand the incidence of neonatal glucose 6-phosphate dehydrogenase (G6PD) deficiency and the gene mutation types of G6PD deficiency in northern Guangdong and the relationship between G6PD deficiency and pathological jaundice. Methods A total of 740 newborns in our hospital from May 2014 to May 2015 were screened for G6PD deficiency and compared with jaundice index monitoring. Ninety-five infants with pathological jaundice were tested for the G6PD deficiency gene. Results The incidence of neonatal G6PD deficiency screening was 4.46%, the incidence of male infants was 6.30% and the incidence of female infants was 2.51%. The incidence of pathological jaundice in normal neonates with G6PD was 8.77%, and the incidence of pathological jaundice in neonates with G6PD deficiency 33.3%. G6PD deficiency gene carrier rate of 5.41%. Conclusion G6PD deficiency is an important cause of neonatal pathological jaundice. It is helpful to guide the intervention of neonatal pathological jaundice on neonatal G6PD screening and G6PD deficiency gene testing.