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ANDERSON-FABRY NEPHROPATHY – CURRENT THERAPEUTIC OPTIONS AND FUTURE PERSPECTIVES
JELENA ŠIMIĆ
orcid.org/0000-0002-1657-2797
; Rijeka University Hospital Centre, Department of Internal Medicine, Division of Nephrology, Dialysis and Renal Transplantation, Rijeka, Croatia
VALENTINO RAČKI
; Rijeka University Hospital Centre, Department of Neurology, Rijeka, Croatia
BOŽIDAR VUJIČIĆ
; Rijeka University Hospital Centre, Department of Internal Medicine, Division of Nephrology, Dialysis and Renal Transplantation, Rijeka, Croatia
SANJIN RAČKI
; Rijeka University Hospital Centre, Department of Internal Medicine, Division of Nephrology, Dialysis and Renal Transplantation, Rijeka, Croatia
Abstract
Anderson-Fabry disease is a lysosomal storage disorder caused by insufficient α-galactosidase A enzyme activity. It is a hereditary X-linked disease that affects both men and women, although males express more typical symptoms at earlier age since they are hemizygotes for the mutated gene. Accumulation of glycosphingolipids in kidney cells has an impact on all nephron segments and causes proteinuria with progressive renal dysfunction, which can ultimately end in terminal renal failure. In this review of the literature, we present therapeutic options including intravenous enzyme replacement therapy with agalsidase alpha and agalsidase beta and oral treatment with molecular chaperons for patients with amenable mutations. Moreover, we investigated current progress in gene therapy of Fabry disease, which is an evolving field with promising results. Timely recognition and early start of treatment significantly reduces morbidity and mortality of patients with Fabry disease, leading to improved quality of life.
Keywords
Anderson-Fabry disease; alpha-galactosidase A; globotriaosylceramide; enzyme replacement therapy; gene therapy
Hrčak ID:
230111
URI
Publication date:
5.12.2019.
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