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.
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,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.
国家科技期刊平台
NSTL
维普
万方数据