Duplex kidney formation: developmental mechanisms and genetic predisposition

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

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.

Keywords: CAKUT; duplex systems; kidney development; ureter budding.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Genetic Predisposition to Disease*
  • Humans
  • Hydronephrosis* / genetics
  • Kidney / abnormalities*
  • Mutation
  • Vesico-Ureteral Reflux* / genetics

Grants and funding

This work was supported by the La Ligue Contre le Cancer.