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Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.
J Nephrol. 2008 Jan-Feb; 21(1):32-7.JN

Abstract

Fabry disease is an X-linked lysosomal storage disorder which is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The lack of enzyme causes a progressive intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (GL3). Affected organs are, among others, the vascular endothelium, heart, brain and kidneys, as well as the central and peripheral nervous system. With the approval of enzyme replacement therapy (ERT) in 2001, a specific treatment approach was opened for the first time. Randomized and placebo-controlled trials have shown the safety and efficacy of ERT with improvement of clinical symptoms and microvascular endothelial cell clearance. Long-term treatment outcomes in patients with severe organ manifestations, in particular proteinuria and renal function impairment, are still critical and warrant further investigation. Besides ERT being an optimized adjunctive therapy, timely initiation of ERT is important to assure optimal medical care. Subsequent follow-up assessments should be carried out in all patients on a regular basis to evaluate treatment outcomes.

Authors+Show Affiliations

Division of Nephrology, Department of Medicine I, University Hospital, Würzburg, Germany. breunig_f@klinik.uni-wuerzburg.deNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18264934

Citation

Breunig, Frank, and Christoph Wanner. "Update On Fabry Disease: Kidney Involvement, Renal Progression and Enzyme Replacement Therapy." Journal of Nephrology, vol. 21, no. 1, 2008, pp. 32-7.
Breunig F, Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol. 2008;21(1):32-7.
Breunig, F., & Wanner, C. (2008). Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. Journal of Nephrology, 21(1), 32-7.
Breunig F, Wanner C. Update On Fabry Disease: Kidney Involvement, Renal Progression and Enzyme Replacement Therapy. J Nephrol. 2008 Jan-Feb;21(1):32-7. PubMed PMID: 18264934.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. AU - Breunig,Frank, AU - Wanner,Christoph, PY - 2008/2/12/pubmed PY - 2008/5/14/medline PY - 2008/2/12/entrez SP - 32 EP - 7 JF - Journal of nephrology JO - J Nephrol VL - 21 IS - 1 N2 - Fabry disease is an X-linked lysosomal storage disorder which is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The lack of enzyme causes a progressive intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (GL3). Affected organs are, among others, the vascular endothelium, heart, brain and kidneys, as well as the central and peripheral nervous system. With the approval of enzyme replacement therapy (ERT) in 2001, a specific treatment approach was opened for the first time. Randomized and placebo-controlled trials have shown the safety and efficacy of ERT with improvement of clinical symptoms and microvascular endothelial cell clearance. Long-term treatment outcomes in patients with severe organ manifestations, in particular proteinuria and renal function impairment, are still critical and warrant further investigation. Besides ERT being an optimized adjunctive therapy, timely initiation of ERT is important to assure optimal medical care. Subsequent follow-up assessments should be carried out in all patients on a regular basis to evaluate treatment outcomes. SN - 1121-8428 UR - https://www.unboundmedicine.com/medline/citation/18264934/Update_on_Fabry_disease:_kidney_involvement_renal_progression_and_enzyme_replacement_therapy_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=18264934.ui DB - PRIME DP - Unbound Medicine ER -