李娜 毛建华

    【摘要】 儿童肾发育不全/不良(RHD)常合并其他先天性肾脏尿路畸形及肾外畸形。特定的畸形组合模式称为RHD相关综合征。其中包括单基因遗传的综合征，如肾缺损综合征、肾囊肿-糖尿病综合征、甲状旁腺功能减退-感觉神经性耳聋-肾发育不良(HDR)综合征、Townes-Brocks综合征、鳃-耳-肾综合征等。非单基因遗传的RHD相关综合征，如阴道斜隔综合征、Mayer-Rokitansky-Küster-Hauser(MRKH)综合征、Zinner综合征、梅干腹综合征、VURD综合征、VACTERL联合征等。不同RHD相关综合征的伴发畸形及肾脏功能预后差异较大，本综述围绕临床上相对常见的RHD相关综合征展开介绍。

    【关键词】 肾发育不全 肾发育不良 多发畸形 肾功能

    Associated Malformations and Renal Prognosis in Children with Congenital Renal Hypoplasia/Dysplasia Related Syndromes/LI Na， MAO Jianhua. //Medical Innovation of China， 2024， 21(05)： -174

    [Abstract] Renal hypoplasia/dysplasia (RHD) in children is often complicated by other congenital renal and urinary tract malformations and extrarenal malformations. Specific combinations of malformations are called RHD-related syndromes. These include monogenic syndromes such as renal coloboma syndrome， renal cyst-diabetic syndrome， hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome， Townes-Brocks syndrome， branchio-oto-renal syndrom， etc. Syndromes with no single causative gene such as oblique vaginal septum syndrome， Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome ......