SHENZANGHEMINIAOXITONGDEXIANTIANXINGJIXINGJIYINZUHEJIANCE
疾病介绍 RENTIMINIAOXITONGBAOKUOSHENZANG、SHUNIAOGUAN、BANGGUANGHENIAODAO，ZHUYAOGONGNENGSHIPAICHURENTIXINCHENDAIXIEGUOCHENGZHONGCHANSHENGDEKERONGXINGFEIWU、DUOYUDESHUIHEWUJIYAN，YIWEICHIJITINEIHUANJINGDEWENDINGHEDIANJIEZHIPINGHENG。MINIAOXITONGDEXIANTIANXINGFAYUYICHANGBAOKUOSHEN、SHENYUHESHUNIAOGUAN、BANGGUANGJINIAODAODEXIANTIANXINGFAYUYICHANG。CHANGJIANJIBINGBAOKUO：SHENQUERUJISHENFAYUBUQUAN、YUANFAXINGBANGGUANGSHUNIAOGUANFANLIU、SHENXINGYANQUESUNZONGHEZHENG、SAI-ER-SHENZONGHEZHENG、FraserZONGHEZHENGDENG。
YANJIUBIAOMING，SHENZANGHEMINIAOXITONGDEXIANTIANXINGJIXINGDEBINGLIJINCHENGZHONGSHEJIDUOZHONGJIYINDETUBIAN。
例如，RET、UPK3A基因的突变可以导致肾缺如及肾发育不全，该病在遗传方式上可表现为常染色体隐性或显性遗传，其基因型与表型具有高度的异质性，约10%的肾缺如及肾发育不全患者具有家族史。PAX2JIYINDETUBIANKEDAOZHISHENXINGYANQUESUNZONGHEZHENG（PapillorenalZONGHEZHENG）DEFASHENG，GAIBINGYICHANGRANSETIXIANXINGMOSHIYICHUAN，ZHUYAOYINGXIANGSHENZANGHEYANBUDEFAYUYICHANG，HUANZHETONGCHANGJUYOUXIAOQIEFAYUBUQUANDESHENZANG，DAOZHIZHONGMOQISHENBING（ESRD），JUGUJI，YUE10%DESHENZANGFAYUBUQUANDEERTONGCHUXIANSHENXINGYANQUESUNZONGHEZHENG。
XIAYIDAICEXUJISHU（NGS）NENGGOUDUITEYIJIBINGHUODUOJIBINGDEDUOZHONGJIYINTONGSHIJINXINGDALIANGPINGXINGCEXU，BINGQIEYUNXUZENGJIATONGLIANG，NENGGOUDADAJIANSHAOFENXISHIJIAN，YIBEIGUANGFANYUNYONGYUSHENZANGHEMINIAOXITONGDEXIANTIANXINGJIXINGJIYINJIANCEXIANGMU。
检测意义 · DUISHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGDEHUANZHEJINXINGZAOQIZHENDUANHEJIANBIEZHENDUAN，TONGGUOSHENGHUOFANGSHIGANYUHEYUFANGXINGZHILIAO，JIANGDIJIBINGFASHENGDEFENGXIAN；
· DUIQUEDINGYOUYICHUANXINGSHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGFENGXIANDEJIAZUCHENGYUANJINXINGZAOQISHAICHA；
· KEZHIDAOYICHUANXINGSHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGHUANZHEJINXINGSHENGZHIXUANZE，TONGGUOZAOQIYUNJIANHUOPEITAIZHIRUQIANYICHUANXUEZHENDUANDENGFANGFA，BIMIANXIAYIDAIHUANBINGDEFENGXIAN。
适用人群 · LINCHUANGSHANGYISIJUYOUYICHUANXINGSHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGDEHUANZHE；
· JUYOUSHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGJIAZUSHIDEGAOFENGXIANRENQUN；
· DUIYUJIANCEDAOSHENZANGHEMINIAOXITONGXIANTIANXINGJIXINGZHIBINGJIYINTUBIANHUANZHEDEGAOWEIJIASHU，JIANYIJINXINGTEDINGBIANYIWEIDIANJIANCE。
检测内容 肾脏和泌尿系统的先天性畸形基因检测，TONGCHANGCAIYONGJIYINZUHE（gene panel）DEJIANCEFANGFA，JIANCEHANGAISHENQUERUJISHENFAYUBUQUAN、YUANFAXINGBANGGUANGSHUNIAOGUANFANLIU、SHENXINGYANQUESUNZONGHEZHENG、SAI-ER-SHENZONGHEZHENG、FraserZONGHEZHENG、OchoaZONGHEZHENG、POERMANZONGHEZHENGDENGXIANGGUAN49GEZHIBINGJIYINDEJIANCE。
样本类型 
参考文献 1.Bulum B, Ozcakar ZB, Ustuner E, et al. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. Pediatr Nephrol. 2013, 28(11): 2143-2147.
2.Renkema KY, Winyard PJ, Skovorodkin IN, et al. Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). Nephrol Dial Transplant. 2011, 26(12): 3843-3851.
3.Hildebrandt F. Genetic kidney diseases. Lancet. 2010, 375(9722): 1287-1295.
4.Eckardt KU, Coresh J, Devuyst O, et al. Evolving importance of kidney disease: from subspecialty to global health burden. Lancet. 2013, 382(9887): 158-169.
最后更新于：2020年03月
基因检测
