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Investig Clin Urol. 2017 Jun;58(Suppl 1):S4-S13. doi: 10.4111/icu.2017.58.S1.S4. Epub 2017 Jun 7.

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

Lee KH1,2,3, Gee HY4, Shin JI1,2,3.

Author information

1
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
2
Department of Pediatric Nephrology, Severance Children's Hospital, Seoul, Korea.
3
Institute of Kidney Disease Research, Yonsei University College of Medicine, Seoul, Korea.
4
Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea.

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.

KEYWORDS:

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

PMID:
28612055
PMCID:
PMC5468264
DOI:
10.4111/icu.2017.58.S1.S4
[Indexed for MEDLINE]
Free PMC Article

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