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ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

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Kidney Week

Rethinking Fabry Disease: Reasons to Look into the Future

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A. Fabry disease is a multisystem disease that affects many organs, including the kidney, heart, and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.

In this session, sponsored by Chiesi's new Rare Global Disease unit, Robert Hopkin, MD, will give a brief overview of Fabry disease and discuss some of the diagnostic difficulties that can make recognition of this condition so challenging, as well as some potential future directions for therapeutic developments in this space. Then, David Warnock, MD, will share his experience with Fabry nephropathy, a common manifestation of Fabry disease.