Schiffmann, R;
Hughes, DA;
Linthorst, GE;
Ortiz, A;
Svarstad, E;
Warnock, DG;
West, ML;
(2017)
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney International
, 91
(2)
pp. 284-293.
10.1016/j.kint.2016.10.004.
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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.
| Type: | Article |
|---|---|
| Title: | Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.kint.2016.10.004 |
| Publisher version: | https://doi.org/10.1016/j.kint.2016.10.004 |
| Language: | English |
| Additional information: | © 2016 International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/4.0/). |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Urology & Nephrology, Chronic Kidney Disease, Enzyme Replacement Therapy, Fabry Disease, Fabry Nephropathy, Standard Of Care, Enzyme-Replacement Therapy, Agalsidase-Beta Therapy, Left-Ventricular Hypertrophy, Randomized Controlled-Trial, Nervous-System Involvement, Natural-History Data, Stage Renal-Disease, Neuropathic Pain, Alpha-Galactosidase, Adult Patients |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1534898 |
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