儿童先天性肾发育不全/不良相关综合征的相关畸形和肾脏预后  

Associated Malformations and Renal Prognosis in Children with Congenital Renal Hypoplasia/Dysplasia Related Syndromes

作　　者：李娜[1] 毛建华[2] LI Na;MAO Jianhua(Zhejiang University School of Medicine,Hangzhou 310058,China;不详)

机构地区：[1]浙江大学医学院,浙江杭州310058 [2]浙江大学医学院附属儿童医院肾脏内科,浙江杭州310052

出　　处：《中国医学创新》2024年第5期169-174,共6页Medical Innovation of China

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-KüsterHauser(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。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 RHDrelated syndromes.These include monogenic syndromes such as renal coloboma syndrome,renal cyst-diabetic syndrome,hypoparathyroidism-deafness-renal dysplasia(HDR)syndrome,Townes-Brocks syndrome,branchiooto-renal syndrom,etc.Syndromes with no single causative gene such as oblique vaginal septum syndrome,Mayer-Rokitansky-Küster-Hauser(MRKH)syndrome,Zinner syndrome,prune belly syndrome,VURD syndrome,VACTERL association,etc.The associated malformations and renal prognosis of different RHD-related syndromes vary greatly.This review focuses on the relatively common RHD-related syndromes in clinical practice.

关 键 词：肾发育不全 肾发育不良 多发畸形 肾功能 

分 类 号：R726.9[医药卫生—儿科]