Biomarkers of Fabry nephropathy : review and future perspective

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

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.

• Jezik: Angleški jezik
• Ključne besede: Fabry nephropathy, biomarkers, genomics, Fabry disease, nephropathy, epigenomics, metabolomics, proteomics, transcriptomics
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 19 str.
• Številčenje: Vol. 11, iss. 9, art. 1091
• PID: 20.500.12556/RUL-134481
• UDK: 616.6
• ISSN pri članku: 2073-4425
• DOI: 10.3390/genes11091091
• COBISS.SI-ID: 29646083
• Datum objave v RUL: 18.01.2022

Gradivo je del revije

• Naslov: Genes
• Skrajšan naslov: Genes
• Založnik: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 18.09.2020

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: Fabryjeva nefropatija, biomarkerji, genomika

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P1-0170
• Naslov: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

• Financer: Drugi - Drug financer ali več financerjev
• Program financ.: Sanofi Genzyme