Biomarkers of Fabry nephropathy : review and future perspective

Levstek, Tina (author), Vujkovac, Bojan (author), Trebušak Podkrajšek, Katarina (author)

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
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2020
• Number of pages: 19 str.
• Numbering: Vol. 11, iss. 9, art. 1091
• PID: 20.500.12556/RUL-134481
• UDC: 616.6
• ISSN on article: 2073-4425
• DOI: 10.3390/genes11091091
• COBISS.SI-ID: 29646083
• Publication date in RUL: 18.01.2022

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

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

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P1-0170
• Name: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

• Funder: Other - Other funder or multiple funders
• Funding programme: Sanofi Genzyme