Dermatol. praxi. 2018;12(2):80-82 [Interní Med. 2018; 20(1): 10-13]

Fabry disease

MUDr. Gabriela Dostálová1, MUDr. Petra Reková2, MUDr. Klára Sedláková, PhD.3, MUDr. Ondřej Kodet4, MUDr. Alena Slováková5, MUDr. Kristýna Bayerová1, MUDr. Lenka Roblová1, MUDr. Lubor Goláň1, prof. MUDr. Aleš Linhart, DrSc.1
1 1II. interní klinika – Kardiologie a angiologie 1. LF UK a VFN v Praze
2 2Neurologická klinika 1. LF UK a VFN v Praze
3 3Oční klinika 1. LF UK a VFN v Praze
4 4Dermatovenerologická klinika 1. LF UK a VFN v Praze
5 5I. klinika tuberkulózy a respiračních nemocí 1. LF UK a VFN v Praze

Fabry disease is an X-linked lysosomal storage disease. Enzyme replacement therapy (ERT) is available in our country since 2004.The sooner diagnosis is made, the better ERT stabilizes the progression of Fabry disease. The timing of ERT is important in orderto prevent irreversible organ damage.

Keywords: Fabry disease, enzyme replacement therapy, nefropathy, cardiomyopathy, stroke

Received: September 6, 2018; Accepted: October 3, 2018; Published: July 1, 2018  Show citation

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Dostálová G, Reková P, Sedláková K, Kodet O, Slováková A, Bayerová K, et al.. Fabry disease. Dermatol. praxi. 2018;12(2):80-82.
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    References

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