发育医学电子杂志 Vol. 7 249-251,263 DOI: 10.3969/j.issn.2095-5340.2019.04.002
临床遗传
专题笔谈
先天性肾脏尿路畸形的遗传学诊断
王芳 丁洁
北京大学第一医院 儿科，北京 100034
Genetic diagnosis of anomalies of the kidney and urinary tract
WANG Fang, DING Jie
摘要 先天性肾脏尿路畸形（congenital anomalies of the kidney and urinary tract，CAKUT）是一类由于胚胎期肾脏和尿路发育缺陷所致的常见结构畸形，往往通过产前超声检查便可得以诊断。此类疾病畸形程度轻重不一，轻者可为肾单位（肾脏的基本结构和功能单位）的数目少，迟至40岁接受肾脏替代治疗［1］ ，重者可致胎儿或新生儿死亡。研究显示，CAKUT是导致儿童终末期肾病的主要原因，占接受肾脏替代治疗儿童的41.3%［2］ 。遗传因素可致此类疾病。鉴于此，从事产科、小儿肾脏内科和小儿泌尿外科的医师有必要提高对CAKUT遗传学诊断方面的认识，以便于个性化地管理此类疾病患者。
关键词:
先天')" href="#">先天
肾脏畸形
尿路畸形
遗传学诊断
收稿日期: 2019-04-02
出版日期: 2019-10-30
发布日期: 2019-11-13
期的出版日期: 2019-10-30
基金资助: 国家重点研发计划（2016YFC0901505）；儿科遗传性疾病分子诊断与研究北京市重点实验室（Z141107004414036）
通讯作者:
王芳
E-mail: wangfangped@163.com
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