Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and...

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Hauptverfasser: Schiffmann, Raphael (VerfasserIn) , Ries, Markus (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2017
In: Kidney international
Year: 2016, Jahrgang: 91, Heft: 2, Pages: 284-293
ISSN:1523-1755
DOI:10.1016/j.kint.2016.10.004
Online-Zugang:Verlag, Volltext: https://doi.org/10.1016/j.kint.2016.10.004
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0085253816306032
Volltext
Verfasserangaben:Raphael Schiffmann, Derralynn A. Hughes, Gabor E. Linthorst, Alberto Ortiz, Einar Svarstad, David G. Warnock, Michael L. West and Christoph Wanner for Conference participants
Beschreibung
Zusammenfassung:Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients. The need to develop more effective specific therapies was also emphasized.
Beschreibung:Other Conference participants Daniel G. Bichet, Canada; Erik Ilsø Christensen, Denmark; Ricardo Correa-Rotter, Mexico; Perry M. Elliott, UK; Sandro Feriozzi, Italy; Agnes B. Fogo, USA; Dominique P. Germain, France; Carla E.M. Hollak, Netherlands; Robert J. Hopkin, USA; Jack Johnson, USA; Ilkka Kantola, Finland; Jeffrey B. Kopp, USA; Jürgen Kröner, Germany; Ales Linhart, Czech Republic; Ana Maria Martins, Brazil; Dietrich Matern, USA; Atul B. Mehta, UK; Renzo Mignani, Italy; Behzad Najafian, USA; Ichiei Narita, Japan; Kathy Nicholls, Australia; Greg T. Obrador, Mexico; João Paulo Oliveira, Portugal; Antonio Pisani, Italy; Juan Politei, Argentina; Uma Ramaswami, UK; Markus Ries, Germany; Wim Terryn, Belgium; Camilla Tøndel, Norway; Roser Torra, Spain; Bojan Vujkovac, Slovenia; Stephen Waldek, UK; Jerry Walter, USA
Available online 18 December 2016
Gesehen am 17.04.2019
Beschreibung:Online Resource
ISSN:1523-1755
DOI:10.1016/j.kint.2016.10.004