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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Published in:	Kidney international 2017-02, Vol.91 (2), p.284-293
Main Authors:	Schiffmann, Raphael, Hughes, Derralynn A., Linthorst, Gabor E., Ortiz, Alberto, Svarstad, Einar, Warnock, David G., West, Michael L., Wanner, Christoph, Bichet, Daniel G., Christensen, Erik Ilsø, Correa-Rotter, Ricardo, Elliott, Perry M., Feriozzi, Sandro, Fogo, Agnes B., Germain, Dominique P., Hollak, Carla E.M., Hopkin, Robert J., Johnson, Jack, Kantola, Ilkka, Kopp, Jeffrey B., Kröner, Jürgen, Linhart, Aleš, Martins, Ana Maria, Matern, Dietrich, Mehta, Atul B., Mignani, Renzo, Najafian, Behzad, Narita, Ichiei, Nicholls, Kathy, Obrador, Greg T., Oliveira, João Paulo, Pisani, Antonio, Politei, Juan, Ramaswami, Uma, Ries, Markus, Terryn, Wim, Tøndel, Camilla, Torra, Roser, Vujkovac, Bojan, Waldek, Stephen, Walter, Jerry
Format:	Article
Language:	eng
Subjects:	alpha-Galactosidase - genetics alpha-Galactosidase - therapeutic use Biomedical Research chronic kidney disease Disease Progression Enzyme Replacement Therapy Fabry disease Fabry Disease - diagnosis Fabry Disease - epidemiology Fabry Disease - genetics Fabry Disease - therapy Fabry nephropathy Genetic Predisposition to Disease Genetic Testing Heredity Humans Mutation Nephrology Pedigree Phenotype Predictive Value of Tests Prognosis Risk Assessment Risk Factors standard of care
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Summary:	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.
ISSN:	0085-2538 1523-1755