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目的 了解东莞地区新生儿G6PD缺乏症的发病情况。方法 以高铁血红蛋白还原试验定性检测新生儿胎脐血标本中的G6PD活性 ,对我院出生的新生儿进行G6PD缺乏症筛查 ,阳性者抽静脉血复查以NBT比值法定量检测血中G6PD活性 ,结合其母父G6PD活性结果作出诊断。结果 ①东莞地区新生儿G6PD缺乏症发生率为3 2 % ,其中男性 3 7% ,女性 2 5 % ;②男性大多数 (72 8% )为重度缺乏 ,少部分 (2 7 2 % )为中间缺乏值 ;女性大多数 (85 4 % )为中间缺乏值 ,少部分 (1 4 6 % )为重度缺乏。③高铁血红蛋白还原试验结合NBT比值法是筛查确诊G6PD缺乏症的最佳组合。④缺乏男婴母亲的结果表明女性杂合子大部分为中间值 ,1 4 %为正常值 ,后者用G6PD测活方法难以发现 ,仅靠产前筛查易漏诊 ,有必要进行新生儿筛查。结论 取用胎脐血检测新生儿红细胞G6PD活性 ,对早期诊治新生儿高胆红素血症以及新生儿核黄疸有着积极意义。
Objective To understand the incidence of neonatal G6PD deficiency in Dongguan area. Methods The G6PD activity in neonatal cord blood samples was qualitatively detected by methemoglobin reduction test. G6PD deficiency screening was carried out in newborns born in our hospital. The positive patients with venous blood were examined by NBT ratio to quantitatively test the G6PD activity in blood, Combined with the results of his mother’s G6PD to make a diagnosis. Results ①The incidence of neonatal G6PD deficiency in Dongguan was 32%, of which 37% were male and 25% of female; ② Most men (72.8%) were severe lacking, while the other part Lack of value; the majority of women (85 4%) were the middle of the lack of values, a small part (146%) of severe lack of. ③ methemoglobin reduction test combined with NBT ratio method is the best screening G6PD deficiency diagnosis. ④ lack of baby boy mothers results show that most of the female heterozygotes median, 14% of normal, the latter by G6PD test method is difficult to find, just missed prenatal screening misdiagnosis, the need for screening of newborns . Conclusion The detection of neonatal erythrocyte G6PD activity using fetal cord blood is of great significance for the early diagnosis and treatment of neonatal hyperbilirubinemia and neonatal kernicterus.