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Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.
Investig Clin Urol 2017; 58(Suppl 1):S4-S13IC

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.

Authors+Show Affiliations

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

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

28612055

Citation

Lee, Keum Hwa, et al. "Genetics of Vesicoureteral Reflux and Congenital Anomalies of the Kidney and Urinary Tract." Investigative and Clinical Urology, vol. 58, no. Suppl 1, 2017, pp. S4-S13.
Lee KH, Gee HY, Shin JI. Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. Investig Clin Urol. 2017;58(Suppl 1):S4-S13.
Lee, K. H., Gee, H. Y., & Shin, J. I. (2017). Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. Investigative and Clinical Urology, 58(Suppl 1), pp. S4-S13. doi:10.4111/icu.2017.58.S1.S4.
Lee KH, Gee HY, Shin JI. Genetics of Vesicoureteral Reflux and Congenital Anomalies of the Kidney and Urinary Tract. Investig Clin Urol. 2017;58(Suppl 1):S4-S13. PubMed PMID: 28612055.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. AU - Lee,Keum Hwa, AU - Gee,Heon Yung, AU - Shin,Jae Il, Y1 - 2017/06/07/ PY - 2017/01/02/received PY - 2017/03/20/accepted PY - 2017/6/15/entrez PY - 2017/6/15/pubmed PY - 2018/4/18/medline KW - Congenital anomalies of the kidney and urinary tract KW - Genetic association studies KW - Organogenesis KW - Vesicoureteral reflux SP - S4 EP - S13 JF - Investigative and clinical urology JO - Investig Clin Urol VL - 58 IS - Suppl 1 N2 - 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. SN - 2466-054X UR - https://www.unboundmedicine.com/medline/citation/28612055/Genetics_of_vesicoureteral_reflux_and_congenital_anomalies_of_the_kidney_and_urinary_tract_ L2 - https://www.icurology.org/DOIx.php?id=10.4111/icu.2017.58.S1.S4 DB - PRIME DP - Unbound Medicine ER -