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Subject

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
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논문 기본 정보

Type
Academic journal
Author
KEUM HWA LEE (연세대학교 의과대학) 지헌영 (연세대학교) 신재일 (연세대학교)
Journal
The Korean Urology Association Investigative and Clinical Urology Investigative and Clinical Urology Vol.58 KCI Accredited Journals
Published
2017.1
Pages
4 - 13 (10page)

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