Kozlov Vladimir M, Schedl Andreas
iBV, Institut de Biologie Valrose, Equipe Labellisée Ligue Contre le Cancer, Université Cote d'Azur, Centre de Biochimie, UFR Sciences, Parc Valrose, Nice Cedex 2, 06108, France.
F1000Res. 2020 Jan 6;9. doi: 10.12688/f1000research.19826.1. eCollection 2020.
Congenital abnormalities of the kidney and urinary tract (CAKUT) are a highly diverse group of diseases that together belong to the most common abnormalities detected in the new-born child. Consistent with this diversity, CAKUT are caused by mutations in a large number of genes and present a wide spectrum of phenotypes. In this review, we will focus on duplex kidneys, a relatively frequent form of CAKUT that is often asymptomatic but predisposes to vesicoureteral reflux and hydronephrosis. We will summarise the molecular programs responsible for ureter induction, review the genes that have been identified as risk factors in duplex kidney formation and discuss molecular and cellular mechanisms that may lead to this malformation.
先天性肾脏和尿路畸形（CAKUT）是一组高度多样化的疾病，它们共同属于新生儿中最常见的畸形。与这种多样性一致的是，CAKUT是由大量基因的突变引起的，并且呈现出广泛的表型。在这篇综述中，我们将聚焦于重复肾，这是一种相对常见的CAKUT形式，通常无症状，但易患膀胱输尿管反流和肾积水。我们将总结负责输尿管诱导的分子程序，回顾已被确定为重复肾形成危险因素的基因，并讨论可能导致这种畸形的分子和细胞机制。
