李斌，张建军，段文元，王同建，金讯波



·综述·

重复肾盂输尿管畸形致病因素研究进展

李斌，张建军，段文元，王同建，金讯波△

重复肾盂输尿管畸形属于先天性肾脏和尿道畸形（CAKUT）范畴内的一种疾病，发病率约0.07%。其表现形式不一，可与其他器官畸形同时发生，可能合并尿道下裂、隐睾、输精管缺如、睾丸和阴茎发育不全等男性生殖系统症状。可终生无明显自觉症状，亦可因继发性积水、结石等逐渐对患侧肾功能造成不可逆损害。该病的家族发病现象在CAKUT中居前列，因其在遗传学上具有不完全外显性，为遗传学研究带来一定困难，其发病机制尚不完全明确，但不少研究证明该病的发病与基因突变、拷贝数变异及环境等多因素有关。在患者中检测到的部分致病因素已在动物模型中得到验证，同时也有致病基因仅在患者或动物模型中发现。综述近年来重复肾盂输尿管畸形致病因素的研究进展。

肾盂；输尿管；基因；变异（遗传学）；环境

【Abstract】The duplex collecting system，amalformation of duplex renal pelvis and ureter，is a disease of congenital anomalies of the kidney and urinary tract（CAKUT）.Themorbidity of this disease is about0.07%.There is a broad spectrum of forms，or it may accompany with many anomalies of other organs，such as hypospadia，cryptorchidism，vas deferens absence，and hypoplasia of testis and penis.Some of patientsmay feel no discom fort all through their life，meanwhile others may get irreversible impairment of renal function due to secondary hydronephrosis and calculi.The family history of the duplex collecting system is the most frequent within all CAKUT.Owing to its incomplete penetrance and the undefined pathogenesis，the genetic research of this disease is a challenge.It was found that this disease is related to gene mutations，copy number variants，and interaction between heredity and environmentand some other factors.Some pathogenic factors found in human have also been confirmed in animalmodels，while others could be found either in animalmodels or human.We herein reviewed the research progress of the pathogenic factors of duplex collecting system.

【Keywords】Kidney pelvis；Ureter；Genes；Variation（genetics）；Environment

（JIntReprod Health/Fam Plan，2016，35：339-343）

基金项目：国家重点基础研究发展计划（2013CB945402）

作者单位：250022济南军区总医院心血管病研究所（李斌，段文元，王同建）；山东大学附属山东省立医院泌尿微创中心（李斌，张建军，金讯波）

通信作者：段文元，E-mail：dwy2115@126.com；王同建，E-mail：wang tongjian0425@126.com

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审校者

重复肾盂输尿管畸形是先天性肾脏和尿道畸形（congenital anomalies of the kidney and urinary tract，CAKUT）范畴内的一种疾病，指单侧或双侧肾脏存在两个相对独立的肾盂结构，并常有两条输尿管发出于肾脏，发病率约0.07%，在CAKUT中的发病率仅低于先天性肾盂输尿管连接部梗阻（ureteropelvic junction obstruction，UPJO）［1］。……