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Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.

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

Author information

1
Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA. Electronic address: raphael.schiffmann@baylorhealth.edu.
2
Department of Haematology, Royal Free London NHS Foundation Trust, & University College London, UK.
3
Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands.
4
Unidad de Dialisis, IIS-Fundacion Jimenez Diaz/UAM, IRSIN, Madrid, Spain.
5
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
6
Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
7
Department of Medicine, Dalhousie University, Halifax, Canada.
8
Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address: wanner_c@ukw.de.

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.

KEYWORDS:

Fabry disease; Fabry nephropathy; chronic kidney disease; enzyme replacement therapy; standard of care

PMID:
27998644
DOI:
10.1016/j.kint.2016.10.004
[Indexed for MEDLINE]
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