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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 PKU and congenital hypothyroidism (CH) in screening newborns in Qinghai Province in the past eight years, and to provide basis for further screening and management of newborn diseases. Methods: Neonates were collected 72 hours after birth and fully breast-fed to collect the medial or lateral heel drops on the filter paper. PKU was used to detect phenylalanine content by fluorescence method. CH was used to detect thyrotropin levels by time-resolved fluorescence immunosorbent assay. Results: A total of 115 524 newborns were screened in Qinghai from 2005 to 2012. The screening coverage of neonatal diseases increased from 8.38% in 2005 to 50.62% in 2012. A total of 30 children with PKU were screened, the incidence rate was 0.26 ‰ (1:3 850). Twenty-two CH children were detected with the incidence of 0.19 ‰ (1:5 251). The morbidity of PKU in Han was 0.33 ‰ (1:3 062), CH was 0.31 ‰ (1:3 224), the incidence of PKU in Hui was 0.41 ‰ (1:2 447), CH was 0.18 ‰ (1:5 710) ; Incidence of Tibetan PKU 0.07 ‰ (1:14 117); other ethnic PKU incidence of 0.11 ‰ (1: 8 908). Conclusions: 1 The incidence of PKU in Qinghai Province was significantly higher than the national average, while CH was lower than the national average, and there were big differences among the major ethnic groups. 2 screening rate is low, should increase publicity efforts to strengthen the construction of screening network to improve patient compliance with treatment, thereby enhancing the coverage of neonatal screening disease.