Investig Clin Urol.  2017 Jun;58(Suppl 1):S4-S13. 10.4111/icu.2017.58.S1.S4.

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract

• Lee KH
• Gee HY
• Shin JI

• KMID: 2379890
• DOI: http://doi.org/10.4111/icu.2017.58.S1.S4

Abstract

The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies can cause pediatric chronic kidney disease. However, the pathogenesis of CAKUT is not well understood, because identifying the genetic architecture of CAKUT is difficult due to the phenotypic heterogeneity and multifactorial genetic penetrance. We describe the current genetic basis and mechanisms of CAKUT including VUR via approaching the steps and signaling pathways of kidney developmental processes. We also focus on the newly developed strategies and challenges to fully address the role of the associated genes in the pathogenesis of the disease.

Keyword

Congenital anomalies of the kidney and urinary tract; Genetic association studies; Organogenesis; Vesicoureteral reflux

MeSH Terms

Genetic Association Studies
Genetics*
Kidney*
Organogenesis
Penetrance
Population Characteristics
Renal Insufficiency, Chronic
Urinary Tract*
Vesico-Ureteral Reflux*

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