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

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• 作者：Raphael Schiffmann¹ ; ^{raphael.schiffmann@baylorhealth.edu} ; Derralynn A. Hughes² ; Gabor E. Linthorst³ ; Alberto Ortiz⁴ ; Einar Svarstad⁵ ; ⁶ ; David G. Warnock⁷ ; Michael L. West⁸ ; Christoph Wanner⁹ ; ^{wanner_c@ukw.de} ; for Conference Participants¹⁰ ; Daniel G. Bichet ; Erik Ilsø ; Christensen ; Ricardo Correa-Rotter ; Perry M. Elliott ; Sandro Feriozzi ; Agnes B. Fogo ; Dominique P. Germain ; Carla E.M. Hollak ; Robert J. Hopkin ; Jack Johnson ; Ilkka Kantola ; Jeffrey B. Kopp ; Jü ; rgen Krö ; ner ; Ale&scaron ; Linhart ; Ana Maria Martins ; Dietrich Matern ; Atul B. Mehta ; Renzo Mignani ; Behzad Najafian ; Ichiei Narita ; Kathy Nicholls ; Greg T. Obrador ; Joã ; o Paulo Oliveira ; Antonio Pisani ; Juan Politei ; Uma Ramaswami ; Markus Ries ; Wim Terryn ; Camilla Tø ; ndel ; Roser Torra ; Bojan Vujkovac ; Stephen Waldek ; Jerry Walter
• 关键词：chronic kidney disease ; enzyme replacement therapy ; Fabry disease ; Fabry nephropathy ; standard of care
• 刊名：Kidney International
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：91
• 期：2
• 页码：284-293
• 全文大小：440 K
• 卷排序：91

文摘

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.