新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查与早期干预

目的探讨本地区新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的发病规律，采取干预措施，预防由于G6PD缺乏而引起的一系列疾病的发生，有效保护新生儿健康。方法采集新生儿出生72h后滤纸干血样，用微量连续流动荧光法测定G6PD含量，阳性者采集静脉血测定G6PD／6PGD比值确诊。结果334882例新生儿G6PD缺乏症筛查实验阳性112例，确诊实验阳性110例，符合率为98．2％；全市新生儿G6PD缺乏症发病率为3．3／万，男、女发病率分别为5．4／万和0．15／万，有显著性差异（χ^2=66．83，P〈0．01）；梁山县显著高于全市平均发病率（9．4／万，χ^2=31．48，P〈0．01），市中区显著低于全市平均发病率（1．0／万，χ^2=10．53，P〈0．01）。新生儿G6PD缺乏症患儿父亲均为山东籍贯，母亲山东籍贯69例，外省籍贯41例，其中广西22例（53．7％）、四川6例（14．6％）、云南4例（9．8％）、贵州3例（7．3％）、广东2例（4．9％）、海南、江西、湖北、福建各1例（2．4％）。父母为济宁市本地居民的新生儿G6PD缺乏症发生率为2．0／万，梁山县仍显著高于全市平均发病率（4．7／万，χ^2=9．83，P〈0．01），市中区仍显著低于全市平均发病率（0．6／万，χ^2=7．20，P〈0．01）。110例患儿中，36例出现新生儿黄疸，其中11例为重度黄疸，25例为中轻度黄疸，母亲为山东和外省籍贯的黄疸发生率分别为26．6％和46．3％（χ^2=4．77，P〈0．05）。通过早期对患儿黄疸的治疗和对家长的健康教育，无1例出现核黄疸和智能发育障碍。结论本地新生儿G6PD缺乏症发病率低于南方地区，G6PD缺乏症高发区人口流入，可增加本地该病的发生率．对患儿黄痘旱期治疗和家长健康教育，可避免因核黄疸引起的患儿死亡或智能发育障碍．

Screening assay and early intervention for neonatal glucose - 6 - phosphate dehydrogenase deficiency.

Objective ： To explore the occurrence rule of neonatal glucose - 6 - phosphate dehydrogenase （ G6PD ） deficiency in this area and take intervention strategy to protect the newborn from the diseases caused by G6PD deficiency. Method： Filter paper dry blood samples from the newborns were collected 72 hours after birth. The level of G6PD was determined by micro - continuous flow fluorescence. Venous blood samples from positive cases were collected and G6PD/6PGD ratio was measured to confirm the diagnosis. Result： 112 positve cases were found by screening assay of G6PD deficiency for 334 882 newborns. 110 cases of them were confirmed. The compliance rate is 98.2%. The incidence of neonatal G6PD deficiency in the whole city is 3.3/104. The incidences of the neonatal G6PD deficiency for male and female are 5.4/10^4 and 0. 15/10^4 with a significant difference （χ2 = 66. 83, P 〈 0. 01 ）. Liangsban County has a significant higher incidence than the average incidence of the whole city （9.4/104, χ2 = 31.48, P 〈 0. 01 ）, while Shizhong District has a significant lower incidence than the average incidence of the whole city （ 1.0/104, χ2 = 10. 53, P 〈 0. 01 ）. The fathers of the newborns who suffer from G6PD deficiency are all from Shandong Province while their mothers are from Shandong Province for 69 cases and other provinces for 41 cases including Guangxi for 22 cases （53.7%）, Sichuan for 6 cases （ 14. 6% ）, Yunnan for 4 cases （9.8%）, Guizhou for 2 cases （7.3%） and Hainan, Jiangxi, Hubei, Fujian for one case separately （2.4%）. The incidence of G6PD deficiency for the newborns whose parents are the natives of Jining is 2.0/104. Liangshan County still has a significant higher incidence than the average incidence of the whole city （4. 7/104 , X2 = 9.83, P 〈 0. 01 ） , while Shizhong District still has a sig- nificant lower incidence than the average incidence of the whole city （0. 6/104 , χ2 = 7.20, P 〈 0. 01 ）. In 110 cases, neonatal jaun- dice occurred in 36 cases including 11 severe jaundice cases and 25 mild jaundice cases. The respective incidence of neonatal jaundice for the newborns whose mothers are from Shandong Province or other provinces is 26. 6% or 46. 3% （χ2 =4. 77, P 〈0. 05 ）. By early treatment of neonatal jaundice and the health education for parents, no cases of kernicterus and mental retardation occurred. Conclusion ： The incidence of neonatal G6PD deficiency in this area is lower than the incidence in the south area. The incidence of this disease in this area rises through population influx from the area which has a high incidence of neonatal G6PD deficiency. By early treatment of neonatal jaundice and the health education for parents, the newborn death and mental retardation can be avoided.