weifangshizhongshengerjibingshaichazhongjianchengliyu2000nian，shiyuanweifangshiweishengju（xianweifangshiweijianwei）zhidingde、jingyuanshengweishengting（xianshengweijianwei）pingshenjigedechuzhizhongshengerjibingshaicharenwudezhuanyejigou，shishijigenbenzhichixueke。jinchao，weifangshizhongshengerjibingshaichazhongjianyichenglileyitaobaoluogexianshidiyufuyoubaojianjigouhegejiyiliaodanweideshoujijianquan、buduibubiandezhongshengerjibingshaichatixi，gouchengleyizhizhongshengershaichazhuanyezhenzhiyingyezhuganweigenbendejishubuduiheyigejifuyoubaojianjigouweishouyaoqilidezhongshengerjibingshaichabanlibudui，danrenduiquanshijiechanyiliaojigousuodanshengdehuochanzhongshengertingzhiyichuandaixiebingdeshaicha，bingduishaichazhongquezhendeyangxinghuanertingzhichijiu、youyong、zhuanye、biaozhundeyizhibanshi。

zhongshengerjibingshaichazhongjianchangshishijuyouguojijinbuqianbeidewallactqdchuanlianzhipuzhongshengershaichatixi、qtrap3200chuanlianzhipuchanfatixi、wallac 1235quanzhudongshihoufenbianyingguangchanfayi、wallac1420banzhudongshihoufenbianyingguangchanfayidengjinbuqianbeiyiqitingzhizhongshengerjibingshaichabingzhongdejianceshaicha，youyongdejinbuleyangxingquezhenhuanzhejianchulv。

juyouyigeankanglinglidehaizishimeiduihushidepeiheyuwang，danzaihaofandezhongshengyingerzhongyouxiangchengyijubudelezhishidaisha、shenhuomiewangdehoutianxing、yichuanxingdaixiexingjibing。zaiwoguo，meinianyue2000wandedanshengshengchizhong，you40wandao50wanmingertongdeleyichuandaixiebing，zheileijibingchangchangzaidanshenghoushuyueheshunianhoucaishanxianchulai，yidanchengxianfeichang，haiziyixingchengzhiliheshenduandebishengcanji，shiyimeigehaizidoumianduiweixian。

zhongshengerjibingshaichanenggouhuoxushihuanerqudechuqizhenduan、chuqiyizhi，bimianhuoxuejianyanjunchengguodefasheng，shijinbushengchibenzhi，xuejiancanjierfashengdezhuyaoshouwan。《zhonghuaguomingongheguomuyingbaojianfa》mingbaihuadingzhongshengerxiangyouzheileiankangbaojiandequanli。weifangdiyudanshengdezhongshengerdouxiangyoucanyuyichuandaixiebingshaichadequanli。

shaichatili: yingerdansheng72xiaoshihou，chibao6cinaihouyoujiechanyiyuanjienazugenxuezhichenglvzhiganxuepian，anhuadingzhujidisongsongzhishaichazhongjiantingzhijiance，rujiancechengguofeichang，jiazhanghuijiedaoyiyuangaosu（delvfenghuodengjixin），jiedaogaosudejiazhangyingjinkuaidaihaizidaoshaichazhongjiantingzhifucha，yibianjinyibumingbaizhenduan，shihuanernengqudechuqiyizhi。   chawenchengguo: jiazhanganzhaozhongshengerjienazugenxuehouqudedeyangbentiaoxingma，jinrupcjianadayuce guanfangwangzhan（lnc-ses.com）huopcjianadayuce banshihao（weixin）zhongshengerjibingshaichachengguochawenlanchawenchengguo。

zhongshengerjibingshaichajienaguojishangzuijinbuqianbeidejianceshouwan，nengjianchuyuemo95%dehuaner，danshaichachabieyulinchuangzhenduan，shoumouxieshenfenru: zaochan、ditizhong、biedejibing、shuangbaotai、weinaishihoutizao、biaobenjinghuahuobiedeshenfenjunnengyingxiangjiancechengguo。youyugeleiyuanyoujichangshizishencunzai5%baibudeloushailv，qingjiazhangfamingxiangganbingzhengshishichachao，yibianquezhenyizhi。

病种专题先容

52种遗传代谢性疾病

houtianxingjiazhuangxiangongxiaodixiazheng

benbingtongniaozheng

houtianxingshenshangxianpizhizengshengzheng

putaotang6linsuantuoqingmeiqueshaozheng

氨基酸血症类遗传代谢病

gaobenbingansuanxuezheng

shengwudielingshengwufenjiemeiqueshaozheng

shengwudielingzaishengfangai

fengtangniaobing

gaoguangansuanniaozheng（guangliumiβfenjiemeiquedian）

gaoguangansuanniaozheng（danansuanfenjiemeiquedian）

guaansuanxuezhengⅰxing

niccdhuoguaansuanxuezhengⅱxing

jinganxianhuposuanniaozheng

laoansuanxuezhengⅰxing

laoansuanxuezhengⅱxing

laoansuanxuezhengⅲxing

jingansuanxuezheng

gaodanansuanxuezheng

gaoniaoansuanxuezheng

gaoniaoansuanxuezheng－gaoanxuezheng－tongxingguaansuanxuezhengzonghezheng（hhhzonghezheng）

gaofuansuanxuezheng

niaoansuananjiaxianzhuanyimeiqueshaozheng

anjiaxianlinsuanfenjiemeiqueshaozheng

无机酸血症类遗传代谢病

yiwusuanxuezheng

wuersuanxuezhengⅰxing

3-qiangji-3-jiajiwuersuanxuezheng

duozhongsuohuameiqueshaozheng

jiajibingersuanxuezheng（mutxing）

jiajibingersuanxuezheng（cbl a,bxing）

jiajibingersuanxuezheng（cbl c,dxing）

3-jiajibadouxianfumeiasuohuameiqueshaozheng

bingsuanxuezheng

βtongliujiemeiqueshaozheng

bingersuanniaozheng

yidingxianganansuanniaozheng

2-jiaji-3-qiangjidingsuanniaozheng

2-jiajidingxianganansuanniaozheng

3-jiajiwuxiersuanniaozheng

yijibingersuannaobing

脂肪酸氧化缺点类遗传代谢病

yuanfaxingroujianqueshaozheng（baoluomuyuanxingcud）

roujian－xianjiroujianyiweimeiqueshaozheng

wuersuanxuezhengⅱxing

duanlianxianjifumeiatuoqingmeiqueshaozheng

zhonglianxianjifumeiatuoqingmeiqueshaozheng

jizhanglianxianjifumeiatuoqingmeiqueshaozheng

duan/zhonglian-3-qiangxianjifumeiatuoqingmeiqueshaozheng

zhanglian-3-qiangxianjifumeiatuoqingmeiqueshaozheng

zhongliantongxianjifumeialiujiemeiqueshaozheng

roujianzonglvxianzhuanyimeiqueshaozhengⅰxing

roujianzonglvxianzhuanyimeiqueshaozhengⅱxing

2,4-erxixianfumeiafuyuanmeiqueshaozheng

sangongxiaoluanbaiqueshaozheng

串连质谱技术筛查的遗传代谢病

yichuandaixiebingdejieshuo

yichuandaixiebingshiyileihoutianxingtineiwuzidaixiefangaisuozhishidejibing，congfenzishengwuxuejiaodukan，shiyouyushoujingluanbianmamoumeidejiyinchengxianjianjiqueshi、bachudengzhuanbian，erzhishimeihuoxingdexiajianghuoqueshi，yincizhishiwuzidaixietongluzuduan，xialiuchanpinjuji，xialiuchanpinqueshao，huoyinpangludaixiefashengfeichangchanpinzengjia，congerjifayixilielinchuangbiaoxianhefeichang。cileijibingduozaizhongshengerqi、yingyouerqibingfa，bingfahouduoyoutingzhixingjianqingdetese，ruweishishizhenduan、yizhi，changchuqiduanminghuofashengshenjing、zhilifeichangdengbishengcanji，jihuaner、jiatingheshehuidailaipangdajikuhechengdan。

遗传代谢病的临床表现

daixiezaluan:

cileijihuanjunyouqiteyidedaixiezhuanbian，jubuhaipeitongshui、dianjiezhifeichanghetangdaixiezaluan，zaizhongshengerhuoyingyouerchuqijichengxianbingzheng，biaoxianweizhong。ruhoutianxingshenshangxianpizhizengshengzhengshiyanxinghuanershenghouhenduotianjichengxianyanjuntuoshui、gaojiadinaxuezheng、dixuetang，naizhicusi。tangyuanjileizhengixinghuanerchangbiaoxianweiguzhixingdixuetang。

gangongxiaoqinhaihuoqiyuzangqishoulei:

rubanrutangxuezheng、gandouzhuanghebianxing、zhanduotangbingdenghuanerduoyougangongxiaoqinhaijiganpizhongda。tongxingbanguangansuanniaozhengchangpeitongjingtituochui、gugefayufeichanghexueguanqinhai。zhanduotangbinghuanerbiaoxianweigugejixing。houtianxingshenshangxianpizhizengshengzhenghuanerduoyoushengzhitixijixing。

pifujimaofafeichang:

rubaihuabing、benbingtongniaozhenghuanzhepifubai、maofahuang，erhoutianxingshenshangxianpizhizengshengzheng、shenshangxiannaobaizhiyangfenbulianghuanzhefusejiaohei，changyousesulengjing。

mianmaojiwuguanjixing:

ruzhanduotangbing、tangyuanbinghuanzhekeyoumianmaofeichang。zhanduotangbing、banrutangxuezheng、shenjingqiaozhibing、tongxingbanguangansuanniaozhengdengjihuannenggouhuoxuchengxianmulijitinglifangai。

qiyu: jubujihuankeyoufuxie、tuni、jiaozao、shishui、huanyangjianku、shizhendengfeitetongxingbingzheng。

yichuandaixiebingdeyizhi

zhunsheng: jinqisuoji，buqisuoque， paiqisuoyu

yinshixianding:

xiandingxiangganwuzideshequ，xuejianduxingdaixiewujixu

yaowugansheganyu:

1、buchonghuanerqueshaodexinsihuoxingwuzi。

2、jiezhineiyuanxingduxingdaixiewudetiansheng。

3、zengjinwuhaidaixiewudefenmi。

daixiediaokong（meidaixie、qiguanyizhi、jiyinyizhi）yibuchongxianggandaixiedemei

zhenduan:

chuanlianzhipu（ms/ms）jishushijinchaoguojishangtingzhiyichuandaixiebingshaichadejingchangshiyongshouwan，youcailiaoxianxian，ruoshijingyouguochengchuanlianzhipujiancejishutingzhiyichuandaixiexingjibingshaicha，neimo3suiyixiaertongyue1%debucemiewangnenggouhuoxubimian。

zheileijishudezhangchushiquyangshao，jiancemingmuduo，shaichajibingpinzhongduo，nengyouyongdeyanzhangzhenliaoshizhang，jinbuzhenzhilv。

后天性甲状腺功效低下症

houtianxingjiazhuangxiangongxiaodixiazheng（ch）shiyizhongyouyujiazhuangxianhoutianxingfayufeichang，zhishijiazhuangxianjisufenjiequeshao，yinfafazhanhuanman、zhilidiaoduidejibing，sucheng“daixiaozheng”，woguobingfalvwei1: 3000—4000，weifangdiyu1: 2000baibu。benbingdanshengshiputongwubingzheng，shaojubuyingerhuichengxianhuangdantizao、bianmi、fuzhangdengfeitetongxingbingzheng，buyiyinfajiazhanghedafudezhuzhong，congerdangezhenduanheyizhi，zhishinaofayufeichang。genzhechunqiudezengjia，huanerzhinenghetipofayujundiaoduiyutonglinghaizidechengdu，zhongjiuchengweiaixiaojixingdeconghuier。ruoquezhenhoudangjiciyuyizhi，kebimianzhinengfangaidefasheng，yizhiyuzaochengguoyuhao。benbingdeyizhiyikoufuzuojiazhuangxiansuweizhu，zhixujiazhangnenggouhuoxuzunxunyizhubiaozhundeyizhi，ertongputongdounengputongfazhanfayu。

苯丙酮尿症

benbingtongniaozheng（pku）shiyizhongchangransetiyinxingyichuanbing，youyuhuanzhetineidaiyoubielilaizihushiliangbiandezhibingjiyin，shibenbingansuanjiqidaixiechanpinzaitineijixu，xingchengdanaoqinhai。woguodebingfalvwei1: 8000—17000。pkuhuanerdanshengshiwufeichang，zaishenghou3—6geyuebaibuchengxiantoufabianhuang、xiaobianyoushuchouyiwei；naizhichengxianchoujing，    huanerzhilidixiazhubujiaozhe。yinshiyizhishijinchaoyizhibenbingdeduyitili，jinshiwubenbingansuanhuodibenbingansuanshipin。chuqishaichaquezhen，bingshishi、biaozhunyizhinenggouhuoxushihuanerheputongrenyiyangankangshengzhang、hukou。

后天性肾上腺皮质增生症

gaibingshiyouyushenshangxianpizhimouzhongmei(hanjian21-qianghuamei)dequeshierzhishishenshangxianpizhigongxiaojiandi，xiongjisuchengdufeichangzenggao，zhishinvxingnanxinghuajinanxingjiaxingzaoshu，shenduanxianaixiao，duixinsixinsifayujijinhouderenwu、hunyin、shengyangdailaiyanjundeyingxiang。anzhaogaibinghuanermeiqueshichengdudechabielinchuangfenweishiyanxing、chunzhennanxinghuaxinghefeidianfan（qingxinghechifaxing）。shiyanxinghuanerchangchangshenghouweijijichengxianyanjundelinchuangbingzheng，rutuni、fuxie、tuoshui、daixiexingsuanzhongdujidixuetangdeng，rubushishiyizhikexingchengxiukejilunhuishuaijie，weijixingming。gexinghuanerdoukechengxianjiaozhexiongjisuguoliangtizheng，kezhishixingbiecuopan，nannvhuanerdoukechengxianchuqishengaozengjiaminjie，erchengrenhoushengaojiaozhediyuputong，nannvhuanerdoukechengxianshengyangfangai。

葡萄糖-6-磷酸脱氢酶缺少症

putaotang6linsuantuoqingmeiqueshaozheng（g6pd）shiyizhongjiaohanjiandexliansuobuwanzhengxianxingyichuandaixiexingjibing。nanxingduobingfa，nvxingduoweizhaoguzhe。youyuhongxibaomeidequedian，huanzhezaimouxieyouyinrumouxieyaowu、shiyongcandoudenghuanjingxiabingfa，linchuangbiaoxianweijixingrongxuexingxuexuhegaodanhongsuxuezheng，huanjingqiuzhujinjikexingchengmiewang。gaibingjinchaojinnengduizhengchuzhi，weibimianhuanerdazhangzhibingshipinhuoyaopinerbingfa，huanerxusuishenzhaogugongyongg6pdqueshaozhengzhaoguka，kapianneirongyouhuanerbunengjinshideshipin，heyaowudengdeng。

遗传代谢病筛查常识问答

1．weishenmeyaocanyuzhongshengerjibingshaicha？

 zhongshengerjibingshaichashiyizhongjianlvedanchun、jisuhebianyideganxuebanchangshi。jingyouguochengzheileishaichakehezaofaminghaizishibushidelehoutianxingyichuanbing，bingtingzhishishideyizhi，shiqiankangshengzhang。

2．zhongshengerjibingshaichayishenmeshihoucaixuezuihao？

caixuegaidangzaiyingerdansheng72xiaoshihoubingchongshiburuhoutingzhi，buran，zaiweiburu、wuluanbaifuhedehuanjingxiaqingyichengxianpkushaichadejiayangxing。lingwai，zaiyingerdansheng72xiaoshihoucaixue，kebikaixinsixingtshhuishengqijian，xuejianlechshaichadejiayangxingjiyu，bingkebimiantshhuishengtizaodehuanerfashengjiayangxing。yingeleiyuanyoutizaochuyuan、zhuanyuandeyinger，bunengzai72xiaoshiyihoucaixuede，zhunshenggaidangjiechandanweiduishangshuyingertingzhigenzongcaixue，jinbushaichadelonggailv，danshihouzuichibuyikuayuedanshenghou20tian。

3．haizidanshenghoukanqilaihenankang，ruxulingyouxuyaocanyuzhongshengerjibingshaichama？

shide，youxuyao。youyudadadoudelehoutianxingyichuanbingdeyingerchangchangzaishaichaqianqueshaoqitetongxingbiaoxian，putongyaodao3-6geyuehoucaichengxianjibingguyoudelinchuangbingzheng，bingriyijianqing。yidanchengxianjibingdelinchuangbingzheng，jibianyizhi，zhilidixiayenanyiguifu；xiangfan，ruonengzaidanshengweijifamingjibing，quezhenyizhi，neimo，jidadadouhuanerdeshenxinjiangqudeputongdefayu，qizhiliyikedaodaputongrendechengdu。

4．zaijiatingzhongyixiangbuhoutianxingyichuanbingdehoudai，lingyouxuyaocanyuzhongshengerjibingshaichama？

  youxuyao。youyuguranzheixieyichuanbinghenshaojian，bingqieyebuzheixiejibingdejiashushi，danyixiangankangdejiatingyehenyounenggouhuoxuchengxianyichuanquediandehoudai。

chawenchengguotili: