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目的分析宜昌市新生儿先天性甲状腺功能减退症(congenital hypothyroidism,CH)及苯丙酮尿症(phenyl-ketonuria,PKU)的筛查现状及发病情况,为防治工作提供依据。方法新生儿出生后72h并吃足6次奶后,采足跟末梢血滴于特定滤纸上。CH筛查采用时间分辨荧光免疫法检测干血滤纸片中的促甲状腺激素(thyroid-stimulating hormone,TSH)浓度,PKU筛查采用荧光法检测干血滤纸片中的苯丙氨酸(phenylalanine,Phe)浓度,将TSH值≥10μIU/ml,phe值≥2mg/dl)的新生儿判为筛查阳性并召回确诊,对确诊患儿进行治疗及随访。结果 2007年至2011年共筛查新生儿119 822例,筛查率为78.75%,筛查率逐年递增;确诊CH患儿130例,发病率为1.085‰(1/922),治疗患儿127例;确诊PKU患儿7例,PKU发病率为0.58/万(1/17117),治疗患儿7例。至目前,CH及PKU治疗患儿的生长发育及智力发育情况均接近正常同龄儿。结论宜昌市为CH及PKU高发区,CH明显高于我国平均发病率;新生儿疾病筛查是早期发现上述两病的重要手段,早期诊断及治疗是预防患儿体格及智能发育障碍的有效方法。
Objective To analyze the screening status and incidence of congenital hypothyroidism (CH) and phenyl-ketonuria (PKU) in newborn infants in Yichang City and provide basis for prevention and treatment. Methods After the newborn was born 72h and had enough milk for 6 times, the heel and heel blood was collected on a special filter paper. CH screening was used to detect the concentration of thyroid-stimulating hormone (TSH) in dry blood filter paper by time-resolved fluorescence immunoassay. PKU screening was used to detect phenylalanine (Phe) ) TSH value ≥ 10μIU / ml, phe value ≥ 2mg / dl) of newborns sentenced as positive screening and recalled confirmed diagnosis and treatment of children with follow-up. Results A total of 119 822 newborns were screened from 2007 to 2011, with a screening rate of 78.75%. The screening rate increased year by year. 130 children with CH were diagnosed with a prevalence of 1.085 ‰ (1/922) Cases; 7 cases confirmed PKU children, the incidence of PKU 0.58 / million (1/17117), 7 cases of children. Up to now, CH and PKU treatment of children with growth and mental development are close to normal peers. Conclusions Yichang is the high incidence area of CH and PKU, and CH is obviously higher than the average morbidity of our country. Neonatal screening is an important means to detect these two diseases in the early stage. Early diagnosis and treatment are effective methods to prevent physical and mental retardation in children .