review and future perspective
Tina Levstek (Avtor), Bojan Vujkovac (Avtor), Katarina Trebušak Podkrajšek (Avtor)

Povzetek

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 e%ective 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.

Ključne besede

Fabry nephropathy;biomarkers;genomics;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.02 - Pregledni znanstveni članek
Organizacija: UL MF - Medicinska fakulteta
UDK: 616.6
COBISS: 29646083 Povezava se bo odprla v novem oknu
ISSN: 2073-4425
Št. ogledov: 162
Št. prenosov: 66
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: Fabryjeva nefropatija;biomarkerji;genomika;
Vrsta dela (COBISS): Članek v reviji
Strani: str. 1-19
Letnik: ǂVol. ǂ11
Zvezek: ǂno. ǂ9
Čas izdaje: 2020
DOI: 10.3390/genes11091091
ID: 14305995