Fabryn tauti
Neuropaattinen kipu ja/tai selittämätön sydänlihaksen hypertrofia tai krooninen munuaissairaus. Nämä voivat olla saman sairauden eri ilmenemismuotoja – Fabryn tauti.1
Yleiskuva
Tunnista Fabryn tauti
Fabryn tauti on X-kromosomiin liittyvä lysosomaalinen kertymäsairaus. Oireet, kuten neuropaattinen kipu, angiokeratoomat ja hypohidroosi, voivat ilmetä jo lapsuudessa. Iän myötä sekä naisille että miehille kehittyy elintärkeiden elinten etenevää vaurioitumista, mikä voi johtaa elinten vajaatoimintaan. Hoitamattomana loppuvaiheen munuaissairaus sekä henkeä uhkaavat sydän- ja aivoverenkierron komplikaatiot voivat merkittävästi lyhentää elinajanodotetta.
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Featured content
Accelerate the identification of rare diseases
accelRare® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.
Artikkelit
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
Cardiac involvement in Fabry disease
Cardiovascular disease is the leading cause of death in fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3
Renal involvement in Fabry disease
Think Fabry, think renal involvement that may present early in life and could go undetected.
Koulutus
A heart for Fabry - Podcast
A podcast series designed by cardiologists, for cardiologists and other healthcare professionals.
Building Care webinar series - Fabry
The Building Care webinar series is designed to deepen your understanding of the critical role a patient-centered, multidisciplinary approach plays in managing Fabry disease.
Chronic Kidney Disease - Management in Patients with Fabry Disease
Management in Patients with Fabry Disease.
Cardiovascular management in patients with Fabry disease
Management in Patients with Fabry Disease.
Resurssi
Accelerate the identification of rare diseases
accelRare® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.
Podcasts
A heart for Fabry - Podcast
A podcast series designed by cardiologists, for cardiologists and other healthcare professionals.
Pysy ajan tasalla Fabryn taudin hoidon kehityksestä.
Saat uusimmat tutkimustulokset ja kliiniset näkemykset suoraan sähköpostiisi.
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Ortiz A et al. Mol Genet Metab 2018; 123(4): 416–427.
MAT-SE-2600350 v1.0-06-2026