journal1 ›› 2015, Vol. 23 ›› Issue (8): 840-842.DOI: 10.11852/zgetbjzz2015-23-08-18

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Clinical analysis of glucose-6-phosphate dehydrogenase deficiency in 1 792 cases of neonatal hyperbilirubinemia.

XIANG Fei-yan,XIAO Han,LIU Xiu-zhen.   

  1. (Wuhan Women and Children Medical Care Center,Wuhan,Hubei 430014,China)
  • Received:2014-12-08 Online:2015-08-10 Published:2015-08-10

1 792例高胆红素血症新生儿G6PD缺乏筛查及临床意义

向飞艳,肖晗,刘秀珍   

  1. 武汉市妇女儿童医疗保健中心检验部,湖北 武汉 430014
  • 作者简介:向飞艳(1986),女,主管技师,硕士研究生,主要研究方向为遗传性疾病的基因诊断。
  • 基金资助:
    武汉市卫生局科研项目(WX14C52)

Abstract: Objective To review the glucose-6-phosphate dehydrogenase (G6PD) deficiency in cases of neonatal hyperbilirubinemia(NHB) to prevent hyperbilirubinemia in early neonatal stage and hemolysis in lifelong. Methods The activity of G6PD was detected by the method of quantitative G6PD/6-phosphaogluconate dehydrogenase (6PGD) ratio and the clinical features of total bilirubin(TB),unconjugated bilirubin(UCB),red blood cell count (RBC),hemoglobin(Hb) level were reviewed. Results A total of 24 cases(23 male infants and 1 female infants) of G6PD deficiency were detected among the 1 792 newborns with hyperbilirubinemia.The serum TB was (34.3±177.6)μmol/L,mean RBC and Hb levels were (3.51±0.88)×1012 /L and (121±27)g/L respectively.There was no significant correlation between TB and G6PD/6PGD ration,RBC,or Hb. Conclusions For the causes to NHB,G6PD deficiency is characterized by early onset,rapid progression levels of G6PD,RBC,Hb can not reflect the severity of jaundice.G6PD screening for neonatal hyperbilirubinemia is necessary to execute as soon as possible.

Key words: hyperbilirubinemia, glucose-6-phosphate dehydrogenase deficiency, newborn, screening

摘要: 目的 通过对高胆红素血症新生儿葡萄糖6磷酸脱氢酶活性(glucose-6-phosphate dehydrogenase,G6PD)测定,筛选G6PD缺乏患儿,分析其临床特点,了解在高胆红素血症新生儿中G6PD缺乏症的发生率及男、女比例情况,早期发现G6PD患儿,提前进行干预降低病死率。方法 改良G6PD测定试剂盒,通过计算G6PD与6-磷酸葡萄糖脱氢酶(6-phosphaogluconate dehydrogenase,6PGD)活性比值方法,判定G6PD活性是否缺乏,并分析血清胆红素,血红蛋白,红细胞计数。结果 收集到1 792例高胆红素血症新生儿,其中男性患儿1 111例,女性患儿681例,G6PD/6PGD比值结果<1.0有24例,占总检测人数的1.34%,其中23例为男性患儿,女性患儿1例,血清总胆红素(total bilirubin,TB)平均值(434.3±177.6)μmol/L,非结合胆红素(unconjugated bilirubin,UCB)为(411.5±163.9)μmol/L,红细胞计数(red blood cell count,RBC)为(3.51±0.88)×1012 /L,血红蛋白(hemoglobin,Hb)为(121±27)g/L。TB与G6PD/6PGD、RBC、Hb无明显相关性(r分别为0.316、-0.307、-0.317,P均>0.05)。结论 G6PD缺乏症在武汉市虽然发生率低,但G6PD缺乏所致新生儿高胆红素血症黄疸进程快而且严重,G6PD活性、Hb水平、红细胞计数不能反映黄疸的严重程度。对于高胆红素血症新生儿应常规进行G6PD活性检查,并给予积极治疗。

关键词: 高胆红素血症, G6PD缺乏, 新生儿, 筛查
中图分类号:R722.1 文献标识码:A 文章编号:1008-6579(2015)08-0840-03 doi:10.11852/zgetbjzz2015-23-08-18

CLC Number: