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.

中文翻译：

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先天性肾脏和泌尿道异常的分子原因（CAKUT）

先天性肾和尿路异常（CAKUT）发生在0.5–1 / 100的新生儿中，它们是儿童慢性肾脏衰竭的最常见原因。CAKUT包括临床异质性疾病，范围从轻度的膀胱输尿管反流到肾脏发育不全。大多数形式的CAKUT都有输尿管芽（UB）和后肾间质（MM）发育相互作用受损的病理生理学。在大多数情况下，CAKUT以孤立状态存在。它们也可能作为罕见的多器官综合症的一部分出现。许多CAKUT可能具有多种病因。但是，多达20％的人类患者和200多种转基因小鼠模型具有单基因形式的CAKUT，这推动了我们揭开分子肾脏（mal-）发育的努力。迄今为止，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患者的典型影像学发现，并重点介绍单基因形式CAKUT分子发病机理的最新机制。