Biomarkers of Fabry Nephropathy: Review and Future Perspective
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 presen...
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doaj-4f738659f5b34a3b96a0d8c470b85cb92020-11-25T03:23:11ZengMDPI AGGenes2073-44252020-09-01111091109110.3390/genes11091091Biomarkers of Fabry Nephropathy: Review and Future PerspectiveTina Levstek0Bojan Vujkovac1Katarina Trebusak Podkrajsek2Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaCentre for Fabry Disease, General Hospital Slovenj Gradec, Gosposvetska cesta 1, 2380 Slovenj Gradec, SloveniaInstitute of Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaProgressive 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 <i>GLA</i> 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.https://www.mdpi.com/2073-4425/11/9/1091biomarkersFabry nephropathyFabry diseasenephropathygenomicsepigenomics |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tina Levstek Bojan Vujkovac Katarina Trebusak Podkrajsek |
spellingShingle |
Tina Levstek Bojan Vujkovac Katarina Trebusak Podkrajsek Biomarkers of Fabry Nephropathy: Review and Future Perspective Genes biomarkers Fabry nephropathy Fabry disease nephropathy genomics epigenomics |
author_facet |
Tina Levstek Bojan Vujkovac Katarina Trebusak Podkrajsek |
author_sort |
Tina Levstek |
title |
Biomarkers of Fabry Nephropathy: Review and Future Perspective |
title_short |
Biomarkers of Fabry Nephropathy: Review and Future Perspective |
title_full |
Biomarkers of Fabry Nephropathy: Review and Future Perspective |
title_fullStr |
Biomarkers of Fabry Nephropathy: Review and Future Perspective |
title_full_unstemmed |
Biomarkers of Fabry Nephropathy: Review and Future Perspective |
title_sort |
biomarkers of fabry nephropathy: review and future perspective |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-09-01 |
description |
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 <i>GLA</i> 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. |
topic |
biomarkers Fabry nephropathy Fabry disease nephropathy genomics epigenomics |
url |
https://www.mdpi.com/2073-4425/11/9/1091 |
work_keys_str_mv |
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