摘要
目的：分析青海省新生儿疾病筛查8年来苯丙酮尿症（PKU）和先天性甲状腺功能低下症（CH）结果,为进一步提高新生儿疾病筛查管理水平及干预措施提供依据。方法：新生儿出生72 h并充分哺乳后采集足跟内侧或外侧血滴于滤纸片,PKU采用荧光法检测苯丙氨酸含量,CH采用时间分辨荧光免疫方法检测促甲状腺激素水平。结果：2005-2012年8年间青海省共筛查新生儿115 524例,新生儿疾病筛查覆盖率由2005年的8.38%提高到2012年的50.62%。共筛检出PKU患儿30例,发病率0.26‰（1∶3 850）;检出CH患儿22例,发病率0.19‰（1∶5 251）。其中汉族PKU发病率0.33‰（1∶3 062）、CH发病率0.31‰（1∶3 224）;回族PKU发病率0.41‰（1∶2 447）、CH发病率0.18‰（1∶5 710）;藏族PKU发病率0.07‰（1∶14 117）;其他民族PKU发病率0.11‰（1∶8 908）。结论：1青海省PKU发病率明显高于全国平均水平,而CH低于国内平均水平,主要民族间存在较大差异。2筛查率低,应加大宣传力度,加强筛查网络建设,提高患者治疗的依从性,从而提升新生儿疾病筛查的覆盖率。
Objective： To analyze the results of phenylketonuria （PKU） and congenital hypothyroidism （CH） during neonatal screening from 2005 to 2012 in Qinghai, provide a basis for further improving management level of neonatal screening and intervention measures. Methods： Blood samples from the heels of adequately breast - fed neonates were dropped on filter papers at 72 hours after birth, fluorescence method was used to detect the contents of phenylalanine, time - resolved fluoroimmunoassy was used to detect the levels of thyroid stimulating hormone （TSH） . Results： From 2005 to 2012, a total of 115 524 neonates were screened in Qinghai, the coverage rate of neonatal screening increased from 8.38% in 2005 to 50. 62% in 2012. Thirty PKU neonates were screened out, the incidence rate was O. 26‰ （ 1 ： 3 850） ; twenty - two CH neonates were screened out, the incidence rate was 0. 19‰ （ 1 ： 5 251 ） . The incidence rates of PKU and CH in Han neonates were 0. 33‰ （1：3 062） and 0. 31‰ （1：3 224）, respectively; the incidence rates of PKU and CH in Hui neonates were 0.41‰ （ 1：2 447） and 0. 18‰ （ 1：5 710）, respectively; the incidence rate of PKU in Tibetan neonates was 0. 07‰ （ 1：14 117） ; the incidence rate of PKU in neonates of the other nationalities was 0. 11‰ （ 1：8 908） . Conclusion： The incidence rate of PKU in Qinghai is sig- nificantly higher than the national average level in China, but the incidence rate of CH in Qinghai is significantly lower than the national average level in China; there is a large gap among the children of major nationalities. The screening rate is low, the publicity and screening network construction should be strengthened to improve the compliance of patients, so as to increase the coverage rate of neonatal screening.
出处
《中国妇幼保健》
CAS
北大核心
2014年第29期4804-4806,共3页
Maternal and Child Health Care of China
