F1000Res. 2020 Jan 6;9:F1000 Faculty Rev-2. doi: 10.12688/f1000research.19826.1. eCollection 2020.

Vladimir M Kozlov¹, Andreas Schedl¹

Affiliation

¹ 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.

Abstract

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.

PMID: 32030122
DOI: 10.12688/f1000research.19826.1