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Fabry disease: where are we now?

  • Nephrology - Review
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Abstract

Fabry disease (FD) is a multisystemic X-linked disorder characterized by the accumulation of lysosomal globotriaosylceramide (Gb3) secondary to decreased activity of α-galactosidase in cells. Generally, males are more severely affected due to the X-linked inheritance pattern of the disease. However, females are asymptomatic or have a less severe pattern of disease. Enzyme replacement therapy (ERT) is the cornerstone of the treatment of FD. At present, there are two forms of ERT that can be applied to FD patients. Novel therapeutic approaches including chaperone therapy, substrate reduction therapy, and gene therapy have been introduced in the era of treatment of FD. In this review, we aimed to discuss the prevalence, clinical and genetic features, pathophysiology, diagnosis, and therapeutic options in FD patients with nephropathy.

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Fig. 1

Reprinted from TURKFAB Study Ref. [8] with permission

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KT is a consultant for Genzyme and has received speaker fees from Genzyme and Takeda.

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  1. Division of Nephrology, Department of Internal Medicine, Meram School of Medicine, Necmettin Erbakan University, Konya, Turkey

    K. Turkmen & I. Baloglu

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Turkmen, K., Baloglu, I. Fabry disease: where are we now?. Int Urol Nephrol 52, 2113–2122 (2020). https://doi.org/10.1007/s11255-020-02546-3

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