先天性肾和尿路异常(CAKUT)的分子原因。

IF 2.4 Q1 PEDIATRICS
Stefan Kohl, Sandra Habbig, Lutz T Weber, Max C Liebau
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引用次数: 17

摘要

先天性肾和尿路异常(先天性肾和尿路异常)发生率为0.5-1/100新生儿,作为一个群体,它们是儿童慢性肾衰竭的最常见原因。ckut包括临床异质性疾病,从轻度膀胱输尿管反流到肾发育不全。大多数形式的CAKUT具有输尿管芽(UB)和后肾间质(MM)发育相互作用受损的病理生理特征。在大多数情况下,CAKUT表现为孤立状态。它们也可能作为罕见的多器官综合征的组成部分出现。许多CAKUT可能有多因素病因。然而,高达20%的人类患者和超过200只转基因小鼠模型具有单基因形式的CAKUT,这推动了我们解开分子肾(不良)发育的努力。迄今为止,已有超过50个基因的遗传变异与人类(分离的)CAKUT相关。在这篇简短的综述中,我们将总结CAKUT患者的典型影像学表现,并强调单基因形式的CAKUT分子发病机制的最新见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).

Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5-1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically heterogeneous conditions, ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT share the pathophysiology of an impaired developmental interaction of the ureteric bud (UB) and the metanephric mesenchyme (MM). In most cases, CAKUT present as an isolated condition. They also may occur as a component in rare multi-organ syndromes. Many CAKUT probably have a multifactorial etiology. However, up to 20% of human patients and > 200 transgenic mouse models have a monogenic form of CAKUT, which has fueled our efforts to unravel molecular kidney (mal-)development. To date, genetic variants in more than 50 genes have been associated with (isolated) CAKUT in humans. In this short review, we will summarize typical imaging findings in patients with CAKUT and highlight recent mechanistic insight in the molecular pathogenesis of monogenic forms of CAKUT.

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