Biomarkers of Fabry nephropathy

review and future perspective

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

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 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.

Keywords

Fabry nephropathy;biomarkers;genomics;

Data

Language:	English
Year of publishing:	2020
Typology:	1.02 - Review Article
Organization:	UL MF - Faculty of Medicine
UDC:	616.6
COBISS:	29646083
ISSN:	2073-4425
Views:	162
Downloads:	66
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	Slovenian
Secondary keywords:	Fabryjeva nefropatija;biomarkerji;genomika;
Type (COBISS):	Article
Pages:	str. 1-19
Volume:	ǂVol. ǂ11
Issue:	ǂno. ǂ9
Chronology:	2020
DOI:	10.3390/genes11091091
ID:	14305995