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Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia
Congenital anomalies of the kidney and urinary tract, as well as primary vesico-ureteric reflux (VUR) and associated renal dysplasia, are the most relevant causes of end-stage renal failure in the pediatric population. In vivo and in vitro experimental studies have allowed the identification of seve...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904386/ https://www.ncbi.nlm.nih.gov/pubmed/17216254 http://dx.doi.org/10.1007/s00467-006-0390-1 |
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author | Murer, Luisa Benetti, Elisa Artifoni, Lina |
author_facet | Murer, Luisa Benetti, Elisa Artifoni, Lina |
author_sort | Murer, Luisa |
collection | PubMed |
description | Congenital anomalies of the kidney and urinary tract, as well as primary vesico-ureteric reflux (VUR) and associated renal dysplasia, are the most relevant causes of end-stage renal failure in the pediatric population. In vivo and in vitro experimental studies have allowed the identification of several genes involved both in ureteric bud branching, ureteric elongation and insertion into the bladder, and in nephrogenesis. It has been proposed that both renal and ureteral abnormalities, as well as the associated renal hypo-dysplasia, may derive from a common mechanism as the result of a dysregulation of the normal developmental program. The large homologies between mice and the human genome suggest that the same genes could be involved both in rodent and human VUR. Furthermore, epidemiological observations suggest that not only syndromic but also isolated VUR is an inherited trait. Linkage analysis for homologous mouse genes in humans, genome-wide linkage studies in multigenerational families and association studies by polymorphisms support the hypothesis that VUR is genetically heterogeneous and is caused by a number of different genes acting with random environmental effects. The present teaching paper is an overview of the embryology and genetics of primary VUR and associated congenital reflux nephropathy. |
format | Online Article Text |
id | pubmed-6904386 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-69043862019-12-24 Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia Murer, Luisa Benetti, Elisa Artifoni, Lina Pediatr Nephrol Educational Feature Congenital anomalies of the kidney and urinary tract, as well as primary vesico-ureteric reflux (VUR) and associated renal dysplasia, are the most relevant causes of end-stage renal failure in the pediatric population. In vivo and in vitro experimental studies have allowed the identification of several genes involved both in ureteric bud branching, ureteric elongation and insertion into the bladder, and in nephrogenesis. It has been proposed that both renal and ureteral abnormalities, as well as the associated renal hypo-dysplasia, may derive from a common mechanism as the result of a dysregulation of the normal developmental program. The large homologies between mice and the human genome suggest that the same genes could be involved both in rodent and human VUR. Furthermore, epidemiological observations suggest that not only syndromic but also isolated VUR is an inherited trait. Linkage analysis for homologous mouse genes in humans, genome-wide linkage studies in multigenerational families and association studies by polymorphisms support the hypothesis that VUR is genetically heterogeneous and is caused by a number of different genes acting with random environmental effects. The present teaching paper is an overview of the embryology and genetics of primary VUR and associated congenital reflux nephropathy. Springer Berlin Heidelberg 2007-06-01 2007 /pmc/articles/PMC6904386/ /pubmed/17216254 http://dx.doi.org/10.1007/s00467-006-0390-1 Text en © IPNA 2007 This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Educational Feature Murer, Luisa Benetti, Elisa Artifoni, Lina Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title | Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title_full | Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title_fullStr | Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title_full_unstemmed | Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title_short | Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
title_sort | embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia |
topic | Educational Feature |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904386/ https://www.ncbi.nlm.nih.gov/pubmed/17216254 http://dx.doi.org/10.1007/s00467-006-0390-1 |
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