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目的了解湖北省筛查新生儿高苯丙氨酸血症(HPA)和先天性甲状腺功能低下症(CH)的工作进展以及两病的发病情况和疾病地理分布情况。方法 CH检测指标为血促甲状腺素(TSH)水平,采用时间分辨荧光免疫分析法(Tr-FIA)或酶免疫荧光分析法(FRIA);HPA检测指标为苯丙氨酸(Phe),均采用荧光法检测。结果汇总2007年-2009年湖北省全省9家筛查中心的上报数据,3年间全省住院分娩活产新生儿1 597 697例,共有753 532例新生儿参加了筛查,筛查率为47.2%。其中检出甲减(CH)患儿503例,发病率1/1498。检出高苯丙氨酸血症38例,发病率1/19830。结论①湖北省CH发病率高于全国平均水平,HPA发病率略低于全国平均水平;②2007年-2009年间湖北省开展新生儿疾病筛查工作有效的降低了该省残疾儿的数量,提高了该省人口健康素质。
Objective To investigate the progress of screening neonatal hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH) in Hubei Province, as well as the incidence of the two diseases and geographical distribution of the disease. Methods The detection index of CH was TSH level, and time-resolved fluorescence immunoassay (TR-FIA) or enzyme-linked immunosorbent assay (FRIA) was used. The detection index of HPA was phenylalanine (Phe) Fluorescence detection. Results The data collected from 9 screening centers in Hubei province from 2007 to 2009 were collected. In the 3 years, 1 597 697 newborns live births in the province and 753 532 newborns participated in the screening with the screening rate of 47.2%. Among them, 503 cases of hypothyroidism (CH) were detected, the incidence rate was 1/1498. High phenylalaninemia detected in 38 cases, the incidence of 1/19830. Conclusions ① The incidence of CH in Hubei Province is higher than the national average, and the incidence of HPA is slightly lower than the national average. ② The screening of neonatal diseases in Hubei Province during 2007-2009 has effectively reduced the number of disabled children and raised the The province’s population health quality.