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先天性肾脏和尿路畸形(CAKUT)

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

作者信息

Rodriguez Maria M

机构信息

Holtz Children's Hospital Department of Pathology, Pediatric Pathology, University of Miami , Coral Gables, FL , USA.

出版信息

Fetal Pediatr Pathol. 2014 Oct-Dec;33(5-6):293-320. doi: 10.3109/15513815.2014.959678. Epub 2014 Oct 14.

Abstract

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.

摘要

本文回顾了大多数先天性肾脏和尿路异常(CAKUT),重点是儿科病理学,描述并举例说明了各种病变,如输尿管重复、肾盂输尿管连接部梗阻、马蹄肾、后尿道瓣膜和梅干腹综合征、梗阻性肾发育不良、不动纤毛病以及几种与肾畸形相关的综合征(梅克尔-朱伯特综合征、短肋多指综合征、巴德-比德尔综合征、无脾/多脾综合征、遗传性肾发育不良、泽尔韦格综合征、三体综合征、VACTER-L综合征、波特综合征、尾端发育异常和美人鱼综合征),以及常染色体显性多囊肾病(ADPKD)和常染色体隐性多囊肾病(ARPKD)。本综述的目的不仅是描述先天性肾异常,还分析可能改变其中一些严重疾病自然病程的最新治疗干预措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcec/4266037/a602146ea78e/PDP-33-293-g001.jpg

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