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
Descripción
Sumario: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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