Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known...

Full description

Saved in:
Bibliographic Details
Main Author: Ihor V. Yosypiv
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:International Journal of Nephrology
Online Access:http://dx.doi.org/10.1155/2012/909083
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1832558247905591296
author Ihor V. Yosypiv
author_facet Ihor V. Yosypiv
author_sort Ihor V. Yosypiv
collection DOAJ
description Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects. Because increasing numbers of children with CAKUT are surviving to adulthood, better understanding of the molecular pathogenesis of CAKUT, development of new strategies aiming at prevention of CAKUT, preservation of renal function, and avoidance of associated cardiovascular morbidity are needed. In this paper, we will focus on the knowledge derived from the study of syndromic and non-syndromic forms of CAKUT in humans and mouse mutants to discuss the role of genetic, epigenetic, and in utero environmental factors in the pathogenesis of non-syndromic forms of CAKUT in children with particular emphasis on the genetic contributions to CAKUT.
format Article
id doaj-art-70d73d92094c40ec89a189be9ea9295c
institution Kabale University
issn 2090-214X
2090-2158
language English
publishDate 2012-01-01
publisher Wiley
record_format Article
series International Journal of Nephrology
spelling doaj-art-70d73d92094c40ec89a189be9ea9295c2025-02-03T01:32:50ZengWileyInternational Journal of Nephrology2090-214X2090-21582012-01-01201210.1155/2012/909083909083Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?Ihor V. Yosypiv0Section of Pediatric Nephrology, Department of Pediatrics, Hypertension and Renal Center of Excellence, Tulane University Health Sciences Center, New Orleans, LA 70112, USACongenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects. Because increasing numbers of children with CAKUT are surviving to adulthood, better understanding of the molecular pathogenesis of CAKUT, development of new strategies aiming at prevention of CAKUT, preservation of renal function, and avoidance of associated cardiovascular morbidity are needed. In this paper, we will focus on the knowledge derived from the study of syndromic and non-syndromic forms of CAKUT in humans and mouse mutants to discuss the role of genetic, epigenetic, and in utero environmental factors in the pathogenesis of non-syndromic forms of CAKUT in children with particular emphasis on the genetic contributions to CAKUT.http://dx.doi.org/10.1155/2012/909083
spellingShingle Ihor V. Yosypiv
Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
International Journal of Nephrology
title Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
title_full Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
title_fullStr Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
title_full_unstemmed Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
title_short Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
title_sort congenital anomalies of the kidney and urinary tract a genetic disorder
url http://dx.doi.org/10.1155/2012/909083
work_keys_str_mv AT ihorvyosypiv congenitalanomaliesofthekidneyandurinarytractageneticdisorder