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dc.contributor.authorMartInez Pulleiro, Raquel
dc.contributor.authorGarcía Murias, María
dc.contributor.authorFidalgo Díaz, Manuel 
dc.contributor.authorGarcía González , Miguel Ángel
dc.date.accessioned2023-03-03T08:35:58Z
dc.date.available2023-03-03T08:35:58Z
dc.date.issued2021
dc.identifier.issn1661-6596
dc.identifier.urihttp://hdl.handle.net/20.500.11940/17392
dc.description.abstractAlport syndrome is a genetic and hereditary disease, caused by mutations in the type IV collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement membrane of the kidney. It is a rare disease with an underestimated prevalence. Genetic analysis of population cohorts has revealed that it is the second most common inherited kidney disease after polycystic kidney disease. Renal involvement is the main manifestation, although it may have associated extrarenal manifestations such as hearing loss or ocular problems. The degree of expression of the disease changes according to the gene affected and other factors, known or yet to be known. The pathophysiology is not yet fully understood, although some receptors, pathways or molecules are known to be linked to the disease. There is also no specific treatment for Alport syndrome; the most commonly used are renin-angiotensin-aldosterone system inhibitors. In recent years, diagnosis has come a long way, thanks to advances in DNA sequencing technologies such as next-generation sequencing (NGS). Further research at the genetic and molecular levels in the future will complete the partial vision of the pathophysiological mechanism that we have, and will allow us to better understand what is happening and how to solve it.
dc.language.isoenes
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleMolecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians
dc.typeJournal Articlees
dc.authorsophosMartínez-Pulleiro, R.;García-Murias, M.;Fidalgo-Díaz, M.;García-González, M.
dc.identifier.doi10.3390/ijms222011063
dc.identifier.sophos44086
dc.issue.number20
dc.journal.titleINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
dc.organizationÁrea Sanitaria de Santiago de Compostela e Barbanza
dc.organizationSERGAS
dc.rights.accessRightsopenAccess
dc.typesophosArtículo de Revisiónes
dc.volume.number22


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