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

Keum Hwa Lee, Heon Yung Gee, Jae Il Shin

Research output: Contribution to journalReview article

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)S4-S13
JournalInvestigative and clinical urology
Volume58
DOIs
Publication statusPublished - 2017 Jan 1

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Vesico-Ureteral Reflux
Kidney
Urologic Diseases
Genetic Heterogeneity
Penetrance
Urinary Tract
Chronic Renal Insufficiency
Pediatrics
Cakut
Genes

All Science Journal Classification (ASJC) codes

  • Urology

Cite this

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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.",
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Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. / Lee, Keum Hwa; Gee, Heon Yung; Shin, Jae Il.

In: Investigative and clinical urology, Vol. 58, 01.01.2017, p. S4-S13.

Research output: Contribution to journalReview article

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