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ANDERSON-FABRY NEPHROPATHY – CURRENT THERAPEUTIC OPTIONS AND FUTURE PERSPECTIVES

JELENA ŠIMIĆ orcid id 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


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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

https://hrcak.srce.hr/230111

Article data in other languages: croatian

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