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Open Access 01-12-2021 | Vesicorenal Reflux | Mini review

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

Authors: Stefan Kohl, Sandra Habbig, Lutz T. Weber, Max C. Liebau

Published in: Molecular and Cellular Pediatrics | Issue 1/2021

Abstract

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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Title: Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
Authors: Stefan Kohl
Sandra Habbig
Lutz T. Weber
Max C. Liebau
Publication date: 01-12-2021
Publisher: Springer Berlin Heidelberg
Keywords: Vesicorenal Reflux
Ureteropelvic Junction Obstruction
Published in: Molecular and Cellular Pediatrics / Issue 1/2021
Electronic ISSN: 2194-7791
DOI: https://doi.org/10.1186/s40348-021-00112-0

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