Genetic testing and glomerular hematuria—A nephrologist's perspective

Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes—COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrom...

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Detalles Bibliográficos
Autor principal: Kashtan, Clifford E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796064/
https://www.ncbi.nlm.nih.gov/pubmed/35775584
http://dx.doi.org/10.1002/ajmg.c.31987
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author Kashtan, Clifford E.
author_facet Kashtan, Clifford E.
author_sort Kashtan, Clifford E.
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description Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes—COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrome. This article describes the evolution of approaches to the diagnosis and early treatment of Alport syndrome.
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spelling pubmed-97960642022-12-28 Genetic testing and glomerular hematuria—A nephrologist's perspective Kashtan, Clifford E. Am J Med Genet C Semin Med Genet Review Articles Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes—COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrome. This article describes the evolution of approaches to the diagnosis and early treatment of Alport syndrome. John Wiley & Sons, Inc. 2022-07-01 2022-09 /pmc/articles/PMC9796064/ /pubmed/35775584 http://dx.doi.org/10.1002/ajmg.c.31987 Text en © 2022 The Author. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Review Articles
Kashtan, Clifford E.
Genetic testing and glomerular hematuria—A nephrologist's perspective
title Genetic testing and glomerular hematuria—A nephrologist's perspective
title_full Genetic testing and glomerular hematuria—A nephrologist's perspective
title_fullStr Genetic testing and glomerular hematuria—A nephrologist's perspective
title_full_unstemmed Genetic testing and glomerular hematuria—A nephrologist's perspective
title_short Genetic testing and glomerular hematuria—A nephrologist's perspective
title_sort genetic testing and glomerular hematuria—a nephrologist's perspective
topic Review Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796064/
https://www.ncbi.nlm.nih.gov/pubmed/35775584
http://dx.doi.org/10.1002/ajmg.c.31987
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