河南省先天性甲低和苯丙酮尿症筛查的初步结果  

The Preliminary Results of Neonatal Screening for Congenital Hypothy- roidism and Phenylketonuria in Henan Province

作　　者：张展[1] 汤有才[1] 赵德华 苏立[1] 

机构地区：[1]河南医科大学第三附属医院河南省新生儿筛查中心,郑州450052

出　　处：《中国初级卫生保健》1999年第11期34-35,共2页Chinese Primary Health Care

摘　　要：为探讨河南省先天性甲低和苯丙酮尿症的发病率,对河南省16个地、市、县的41家医院出生的非选择新生儿4.1万人,于出生72小时,充分哺乳后采血。先天性甲状腺功能低下症采用DELFIA(时间分辨免疫荧光法)检测,苯丙酮尿症采用Guthrie细菌抑制法检测,阳性病人确诊后立即给予治疗并建立随访制度。得出结果,4.1万新出生婴儿中CH阳性6例,发病率为1/6833,而PKU阳性3例,发病率为1/13667,与我国其他地区相比,CH发病率稍低,PKU则符合我国的发病情况。新生儿筛查的初步结果表明,我省CH和PKU均有发病,且基本符合我国总的发病情况,但更精确的结果有待于新生儿筛查的深入和普及。In order to study the incidences of Congenital Hypothyroidism (CH) and Phenylketonuria (PKU) in Henan Province. 41 000 no -choice newborns, from the 41 hospitals in 16 cities in Henan Province,received screening. When they had full nourishment 72 hours afrer birth,the blood samples were taken. CH is detected by DELFIA assay and PKU by Guthrie bacteria inhibition assay. The positive cases are treated at once after diagnosis. And at the same time,the rule to recall and investigate patients is set up. We conclude that in 41 000 newborns, there are 6 positives of CH and 3 positives of PKU,and the incidence of CH is 1/6 833,PKU is 1/13 667. Comparing with the other areas in our country, the incidence of CH in Henan is lower,and the incidence of PKU accords with that in our country. The preliminary result of this study indicates that both CH and PKU come on in our province,and the incidences of them basically accord with the common frequency in our country. But the more accurate result depends on the development and promotion of the neonatal screening.

关 键 词：先天性 甲状腺功能低下 苯丙酮尿症 筛查 

分 类 号：R725.812[医药卫生—儿科] R725.893[医药卫生—临床医学]