title: Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
abstract: 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.
authors.affiliation: Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA. Electronic address: raphael.schiffmann@baylorhealth.edu.
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.affiliation: Department of Haematology, Royal Free London NHS Foundation Trust, & University College London, UK.
authors.forename: Derralynn A
authors.initials: DA
authors.lastname: Hughes
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands.
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.affiliation: Unidad de Dialisis, IIS-Fundacion Jimenez Diaz/UAM, IRSIN, Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Ortiz
authors.affiliation: Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
authors.forename: Einar
authors.initials: E
authors.lastname: Svarstad
authors.affiliation: Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: David G
authors.initials: DG
authors.lastname: Warnock
authors.affiliation: Department of Medicine, Dalhousie University, Halifax, Canada.
authors.forename: Michael L
authors.initials: ML
authors.lastname: West
authors.affiliation: Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address: wanner_c@ukw.de.
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
mesh_terms: D035843:Biomedical Research; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D009154:Mutation; D009398:Nephrology; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase
keywords: Fabry disease; Fabry nephropathy; chronic kidney disease; enzyme replacement therapy; standard of care