11574例新生儿脐血G-6-PD筛查结果分析  

Application and clinical value of screening with umbilical blood on the disease of glucose-6-phosphate dehydrogenate deficiency

作　　者：邓炬贤 潘永晃 

机构地区：[1]广东省东莞石龙人民医院儿科,广东东莞523321

出　　处：《中国医师杂志》2006年第4期474-475,共2页Journal of Chinese Physician

摘　　要：目的了解本地区G-6-PD缺陷的发生率及新生儿脐血筛查对诊断G-6-PD缺陷的应用价值。方法对产科出生的11574例全部活产婴作脐血G-6-PD筛查，分别于3-5岁对脐血检测G-6-PD缺陷者（320例）和G-6-PD正常者（215例）复查G-6-PD活性。结果11574例中，脐血检测G-6-PD缺陷641例，缺陷率为5．5％；男性缺陷率为7．9％，女性为3．0％，二者比较差异有统计学意义（P〈0．001），对缺陷者复查幼儿血栓测G-6-PD活性，二者符合率高达96．7％。结论G-6-PD缺陷在本地区常见，脐血筛查可作为诊断G-6-PD缺陷的有力依据，对降低其发病率有重要意义。Objective To investigate the incidence and diagnosis of glucose-6-phosphate dehydrogenate （G-6-PD） deficiency through screening with umbilical blood or infants＇peripheral blood. Methods The umbilical blood of 11574 infants delivered in our hospital was detected to screen G-6-PD deficiency. Activity of G-6-PD was also detected in 320 G-6-PD deficiency infants and 215 normal infants from 3 to 5 years old. Results Six hundred and forty-one patients in 11574 cases were screened with umbilical blood as G-6-PD deficiency and the incidence rate was 5.5%. The incidence rates in boys and girls were 7.9% and 3.0% respectively with significant difference （ P 〈 0. 01 ）. The coincidence rate of detection with umbilical blood or infants peripheral blood was 96. 7%. Conclusions The G-6-PD deficiency was a common disease in this district and screening with umbilical blood may be a useful way to diagnose it.

关 键 词：葡糖磷酸脱氢酶缺乏/血液/诊断 葡糖磷酸脱氢酶/血液 胎血 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]