1999～2012年泰安市新生儿遗传代谢病筛查数据分析  

Analysis on Data of Newborns Inherited Metabolic Disease Screening,Taian City,1999-2012

作　　者：刘祥举[1] 

机构地区：[1]泰安市妇幼保健院,山东泰安271000

出　　处：《预防医学论坛》2013年第10期727-730,共4页Preventive Medicine Tribune

摘　　要：目的了解泰安市新生儿遗传代谢病发病情况。方法对泰安市1999年6月至2012年12月定点助产单位采集的新生儿遗传代谢病血样检测资料进行分析。结果1999年6月至2012年12月，泰安市累计活产791846人，参与先天性甲状腺功能减低症（CE）和苯丙酮尿症（PKU）筛查的790261人，增加先天性肾上腺皮质增生症（CAH）和葡萄糖-6-磷酸脱氢酶缺乏症后，筛查人数为153412人，筛查率为99．80％。累计确诊遗传代谢病381例，发病率为48．21／10万。其中，CH发病率为27．96／]0万；PKU发病率为15．94／10万；CAH发病率为5．21／10万；G6PD发病率为16．94／10万。1999～2012年新生儿遗传代谢病平均发病率，泰山区为37．24／10万，岱岳区为60．55／10万，新泰市为53．07／10万，肥城市为44．58／10万，宁阳县为51．93／10万，东平县为45．89／10万；男性为45．65／10万，女性为51．02／10万。结论泰安市1999～2012年新生儿遗传代谢病发病率较高，发现的新生儿遗传代谢病主要是CH和PKU。Objective To understand newborns inherited metabolic disease outbreaks in Taian city. Methods A- nalysis was made on the blood test date of newborns inherited metabolic disease,June, 1999 December, 2012 taken from midwi{ery unit acquisition of Taian city. Results During June, 1999 December 2012, Taian city had live births of 791 846,among which,790 261 participated in congenital hypothyroidism （CH） and phenylketonuria （PKU） screening, 153 412 attended congenital adrenal hyperplasia （CAH） and glucose-6-phosphate dehydrogenase （G6PD） screening. The screening-ratio of the above {our inherited metabolic diseases was 99.80 ~. The accumulated confirmed inherited metabolic disease were 381 cases, the incidence was 48.21/105. Among them, the incidence of CH, PKU, CAH, G6PD respectively was 27.96/105 ,15.94/105 ,5.21/105 ,and 16.94/105. During 1999-2012,the average incidence of newborns inherited met- abolic disease,in Taishan districl was 37.24/10^5 ,Daiyue district was 60.55/105 ,Xintai city was 53.07/10^5 ,Feicheng city was 44.58/105 ,Ningyang county was 51.93/10s ,Dongping County was 45.89/105 ;Women and men were 51.02/105 , 45.65/105 respectively. Concltlsion During 1999-2012,Taian city has a high incidence of newborns inherited metabolic diseases,which are mainly CH and PKU.

关 键 词：新生儿 遗传代谢病 筛查 

分 类 号：R89[医药卫生—法医学]