【摘要】 目的分析厦门市和龙岩市2007年1月—2013年12月新生儿遗传代谢性疾病筛查结果,了解新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)的发病率及诊疗情况。方法采集出生满72 h的新生儿足跟血,PKU筛查采用化学荧光法检测血苯丙氨酸浓度,CH筛查采用时间分辨免疫荧光法检测促甲状腺激素浓度。筛查阳性和疑似病例均随访,并观察其智能发育情况。结果 PKU、CH的发病率分别为1/39 886和1/1 078,治疗率分别为95.65%和98.31%,共有23例患儿遗留不同程度智能发育障碍。结论新生儿疾病筛查是早期发现并诊断疾病的关键,及早干预和治疗可避免或减轻患儿智能、体格发育障碍,提高人口素质。更多还原

【Abstract】 Objective To analyze the screening result of neonatal hereditary metabolic disease from January 2007 to December 2013 in Xiamen and Longyan city and to explore the incidence rates and diagnostic status of congenital hypothyroidism( CH) and phenylketonuria( PKU) in 638 171 neonates. Methods Blood specimen were collected from heel of neonates delivered within 72 hours.The concentrations of thyroid stimulating hormone( TSH) and phenlalanine( Phe) were measured by time-resolved fluorescence immunoassay( Tr-FIA) and fluorometric. Neonates with positive CH or PKU and borderline case were followed up in order to observe their intelligence developments. Results The incidence rates of PKU and CH in 638 171 neonates were 1 /39 886 and 1 /1 078 respectively,and the cure rates in neonates with PKU and CH were 96. 65% and 98. 31% respectively. Twenty three neonates had different degrees of intelligence development disorders. Conclusion Screening for neonatal diseases is a key point in early detection and treatment of CH and PKU. Early prevention and treatment can avoid or reduce the disorders of intelligence and psychological developments.更多还原