izpis_h1_title_alt

Biomarkers of Fabry nephropathy : review and future perspective
ID Levstek, Tina (Author), ID Vujkovac, Bojan (Author), ID Trebušak Podkrajšek, Katarina (Author)

.pdfPDF - Presentation file, Download (837,64 KB)
MD5: 4DCF6E870E969EA4B1736E32453E4F4C
URLURL - Source URL, Visit https://www.mdpi.com/2073-4425/11/9/1091 This link opens in a new window

Abstract
Progressive nephropathy is one of the main features of Fabry disease, which largely contributes to the overall morbidity and mortality burden of the disease. Due to the lack of specific biomarkers, the heterogeneity of the disease, and unspecific symptoms, diagnosis is often delayed. Clinical presentation in individual patients varies widely, even in patients from the same family carrying the same pathogenic GLA variant. Therefore, it is reasonable to anticipate that additional genomic, transcriptomic, proteomic, and metabolomics factors influence the manifestation and progression of the disease. The aim of this article is to provide an overview of nephropathy in Fabry patients and the biomarkers currently used in the diagnosis and follow-up. Current biomarkers are associated with late signs of kidney damage. Therefore, there is a need to identify biomarkers associated with early stages of kidney damage that would enable early diagnosis, which is crucial for effective treatment and prevention of severe irreversible complications. Recent advances in sequencing and -omics technologies have led to several studies investigating new biomarkers. We will provide an overview of the novel biomarkers, critically evaluate their clinical utility, and propose future perspectives, which we believe might be in their integration.

Language:English
Keywords:Fabry nephropathy, biomarkers, genomics, Fabry disease, nephropathy, epigenomics, metabolomics, proteomics, transcriptomics
Work type:Article (dk_c)
Typology:1.02 - Review Article
Organization:MF - Faculty of Medicine
Year:2020
Publication status in journal:Published
Article version:Publisher's version of article
Number of pages:19 str.
Numbering:Vol. 11, iss. 9, art. 1091
UDC:616.6
ISSN on article:2073-4425
DOI:10.3390/genes11091091 This link opens in a new window
COBISS.SI-ID:29646083 This link opens in a new window
Publication date in RUL:18.01.2022
Views:113
Downloads:54
Metadata:XML RDF-CHPDL DC-XML DC-RDF
:
Share:AddThis
AddThis uses cookies that require your consent. Edit consent...

Record is a part of a journal

Title:Genes
Shortened title:Genes
Publisher:MDPI
ISSN:2073-4425
COBISS.SI-ID:523100185 This link opens in a new window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:18.09.2020

Secondary language

Language:Slovenian
Keywords:Fabryjeva nefropatija, biomarkerji, genomika

Document is financed by a project

Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije (ARRS)
izpis_stevilka_projekta:P1-0170
Name:Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

Funder:Drugi - Drug financer ali več financerjev
Funding Programme:Sanofi Genzyme

Similar documents

Similar works from RUL:
Similar works from other Slovenian collections:

Back