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ANDERSON-FABRY NEPHROPATHY – CURRENT THERAPEUTIC OPTIONS AND FUTURE PERSPECTIVES

JELENA ŠIMIĆ orcid id orcid.org/0000-0002-1657-2797 ; Klinički bolnički centar Rijeka, Klinika za internu medicinu, Zavod za nefrologiju, dijalizu i transplantaciju bubrega, Rijeka, Hrvatska
VALENTINO RAČKI ; Klinički bolnički centar Rijeka,Klinika za neurologiju, Rijeka, Hrvatska
BOŽIDAR VUJIČIĆ ; Klinički bolnički centar Rijeka, Klinika za internu medicinu, Zavod za nefrologiju, dijalizu i transplantaciju bubrega, Rijeka, Hrvatska
SANJIN RAČKI ; Klinički bolnički centar Rijeka, Klinika za internu medicinu, Zavod za nefrologiju, dijalizu i transplantaciju bubrega, Rijeka, Hrvatska


Puni tekst: hrvatski pdf 102 Kb

str. 297-301

preuzimanja: 118

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Sažetak

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.

Ključne riječi

Anderson-Fabry disease, alpha-galactosidase A, globotriaosylceramide, enzyme replacement therapy, gene therapy

Hrčak ID:

230111

URI

https://hrcak.srce.hr/230111

Podaci na drugim jezicima: hrvatski

Posjeta: 342 *