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Review

Biomarkers of Fabry Nephropathy: Review and Future Perspective

1
Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
2
Centre for Fabry Disease, General Hospital Slovenj Gradec, Gosposvetska cesta 1, 2380 Slovenj Gradec, Slovenia
3
Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Genes 2020, 11(9), 1091; https://doi.org/10.3390/genes11091091
Received: 28 August 2020 / Revised: 9 September 2020 / Accepted: 16 September 2020 / Published: 18 September 2020
(This article belongs to the Special Issue Genetics and Genomics of Inherited Metabolic Diseases)
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. View Full-Text
Keywords: biomarkers; Fabry nephropathy; Fabry disease; nephropathy; genomics; epigenomics; metabolomics; proteomics; transcriptomics biomarkers; Fabry nephropathy; Fabry disease; nephropathy; genomics; epigenomics; metabolomics; proteomics; transcriptomics
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MDPI and ACS Style

Levstek, T.; Vujkovac, B.; Trebusak Podkrajsek, K. Biomarkers of Fabry Nephropathy: Review and Future Perspective. Genes 2020, 11, 1091. https://doi.org/10.3390/genes11091091

AMA Style

Levstek T, Vujkovac B, Trebusak Podkrajsek K. Biomarkers of Fabry Nephropathy: Review and Future Perspective. Genes. 2020; 11(9):1091. https://doi.org/10.3390/genes11091091

Chicago/Turabian Style

Levstek, Tina, Bojan Vujkovac, and Katarina Trebusak Podkrajsek. 2020. "Biomarkers of Fabry Nephropathy: Review and Future Perspective" Genes 11, no. 9: 1091. https://doi.org/10.3390/genes11091091

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