江门地区新生儿先天性甲状腺功能减低症与苯丙酮尿症发病现状分析与研究  

Study on incidence and type of phenylketonuria and congenital hypothyroidism in newborn in Jiangmen city

作　　者：钟林[1] 谭忠伟[1] 刘智[1] 

机构地区：[1]江门市妇幼保健院新生儿筛查中心,广东529000

出　　处：《中国优生与遗传杂志》2009年第8期74-75,110,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析研究江门市2008年1月至2008年12月新生儿苯丙酮尿症(PKU)与甲状腺功能减低症(CH)发病现状及两病发病类型构成比例。方法PKU应用荧光分析法测定血苯丙氨酸(Phe)浓度、CH应用荧光酶免疫分析法测定促甲状腺激素(TSH),共30125例。结果江门市未发现新生儿PKU发病率,与世界、国内范围内有差异;CH1∶1673,与世界、国内范围之间有著差异;CH患儿中以腺体缺失及部分缺如为主,CH总体男女发病率基本一致。结论基本总结分析出江门市新生儿苯丙酮尿症与甲状腺功能减低症两病发病率及两病发病主要类型.为筛查及治疗工作提供可靠科学依据,推动本市新生儿筛查工作开展,提高儿童保健水平。Objective： To explore the incidence and type proportion of phenylketonuria （PKU） and congenital hypothyroidism （CH） in newborn in Jiangmen city. Methods： 30125 newborns were screened for PKU to detect serum phenylalanine concention by fluorometric methods, and for CH to detect serum thyroid stimulating hormone （TSH） levels by fluorometric enzyme immunoassay （FEIA）. Results： The incidence of PKU was 0 ; The incidence of CH was 1： 1673, which had difference compared with that in china or worldwide, complete or part of congenital absence of thyroid gland were commonly screened in CH. Conclusion： The incidence of PKU and CH were determined in jiandmen city , the main types of these two diseases were also found in this district. On the basis of this work, neonatal diseases screening work and treatment would be favorable.

关 键 词：新生儿疾病筛查 苯丙酮尿症 先天性甲状腺功能减低症 发病率 

分 类 号：R722.1[医药卫生—儿科]