CAJ | 학술논문

目的总结分析茂名市地区2008~2011年间新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)和葡萄糖-6-磷酸脱氢酶(G-6PD)缺乏症3种新生儿先天性疾病和遗传病的筛查结果,总结新生儿遗传代谢病筛查的工作进展以及发病情况.方法采用干滤纸片法对全血中的促甲状腺素、苯丙氨酸和G6PD活性进行测定.结果4年以来共筛查225967份新生儿血样本,检出CH、PKU和G-6PD缺乏症患儿各145例、2例和15975例,发病率分别为1/1558、1/112984和7.07%,CH的发病率明显高于全国1/3009的发病率,C6PD缺乏症的发生率也明显高于全国0.69%的发生率. PKU的发病率则明显低于全国1/11144的发病率.结论通过新生儿遗传代谢病筛查可避免其对新生儿智能和体格发育的损害.加强新生儿遗传代谢病筛查工作是控制出生缺陷、提高出生人口素质的重要措施.
목적총결분석무명시지구2008~2011년간신생인선천성갑상선공능감저증(CH)、분병동뇨증(PKU)화포도당-6-린산탈경매(G-6PD)결핍증3충신생인선천성질병화유전병적사사결과,총결신생인유전대사병사사적공작진전이급발병정황.방법채용간려지편법대전혈중적촉갑상선소、분병안산화G6PD활성진행측정.결과4년이래공사사225967빈신생인혈양본,검출CH、PKU화G-6PD결핍증환인각145례、2례화15975례,발병솔분별위1/1558、1/112984화7.07%,CH적발병솔명현고우전국1/3009적발병솔,C6PD결핍증적발생솔야명현고우전국0.69%적발생솔. PKU적발병솔칙명현저우전국1/11144적발병솔.결론통과신생인유전대사병사사가피면기대신생인지능화체격발육적손해.가강신생인유전대사병사사공작시공제출생결함、제고출생인구소질적중요조시.
Objective: To summarize and analyze 3 new children congenital and genetic diseases screening results in Maoming City from 2008 to 2010, it includes the newborns with congenital hypothyroidism (CH), phenylketonuria (PKU) and glucose -6- phosphate dehydrogenase (G-6PD) deficiency, summarized the progress of neonatal genetic metabolic disease screening and incidence. Methods: The dry filter paper method was used to determining whole blood thyrotropin, phenylalanine and G6PD activity. Results: A total of 3 years were 141044 newborn screening blood samples, the detection CH, PKU, and G-6PD deficiency in children of the 106 cases, 1 case and 1 331 cases, the incidence rates were 1/1558、1/112984and 7.07%, CH and national incidence rate of1/3009 was no significant difference, while the incidence of C6PD deficiency was significantly higher than 0.69, PKU and national incidence rate of1/11144 was no significant difference. Conclusion: It could prevent their intelligence and physical development of newborn damage through neonatal genetic metabolic disease screening. Strengthen the work of newborn genetic metabolic disease screening will control birth defects and improve the quality of births.