唐山市新生儿苯丙酮尿症与先天性甲状腺功能减低症发病现状分析与研究  

Study on incidence and type of phenylketonuria and congenital hypothyr oidism in newborn in Tangshan city

作　　者：韩宝生[1] 孙琳杰[1] 吴剑华[1] 李丹[1] 

机构地区：[1]河北省唐山市妇幼保健院遗传生殖医学中心,063000

出　　处：《中国妇幼保健》2005年第16期2109-2112,共4页Maternal and Child Health Care of China

摘　　要：目的:分析研究我市新生儿苯丙酮尿症(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应用时间分辨荧光分析法测定促甲状腺激素(TSH),共93101例。结果:唐山市PKU发病率1:10400,与世界、国内范围内无差异;CH1∶7100,与世界范围之间比较无差异,与国内范围之间比较有差异;唐山不同地区筛查患儿发病率与本市总体发病率比较均无差异;PKU患儿以经典型为主,且以男婴为主;CH中以腺体缺如及部分缺如为主,以男婴居多,但CH总体男女发病率基本一致。结论:基本总结分析出唐山市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 Tangshan city. Methods： 93 101 newborns were screened for PKU to detect serum phenylalanine concentration by fluorometric methods, and for CH to detect serum thyroid stimulating hormone （TSH） levels by time -resolved fluorometry. Results： The incidence of PKU was 1：10 400, which had no difference from that in China or worldwide. The incidence of CH was 1： 7 100, which had no difference from that in worldwide, but had difference compared with that in China. The type of classical PKU was prevailing, in which male cases were commonly seen. While complete or part of congenital absence of thyroid gland were commonly seen in CH, in which male cases were also commonly seen, but the general incidence of CH was similar between sex. Conclusion ： The incidence of PKU and CH were determined in Tangshan 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：R715.7[医药卫生—妇产科学]