David G Warnock1. 1. Department of Medicine, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294-0006, USA. dwarnock@uab.edu
Abstract
PURPOSE OF REVIEW: Interest in the diagnosis and treatment of Fabry disease has been greatly stimulated by the availability of Food and Drug Administration-approved, effective enzyme-replacement therapy. This review will update the progress in this area over the last 18 months that effective enzyme-replacement therapy has become available. RECENT FINDINGS: Fabry disease is often associated with proteinuric chronic kidney disease, and it appears that the treatment paradigms that have proven to be so effective in diabetes mellitus and other forms of proteinuric renal disease are also effective, in conjunction with enzyme-replacement therapy for treating the renal manifestations of Fabry disease. As such, Fabry disease represents an interesting example of progressive proteinuric renal disease in which the usual blood pressure is lower than in other renal diseases. This makes the use of effective anti-proteinuric therapy challenging, especially considering the autonomic dysfunction that appears to be part of the disease. Recent advances are considered in this review, with emphasis on the role of kidney biopsy, effective dosing and maximal comprehensive therapy of Fabry disease. SUMMARY: Maximal, comprehensive therapy for Fabry disease includes effective enzyme-replacement therapy and all of the adjunctive therapies that are currently used to treat all forms of proteinuric chronic kidney disease. It is anticipated that this approach will preserve kidney function and also benefit the cardiac and cerebrovascular systems in patients with Fabry disease.
PURPOSE OF REVIEW: Interest in the diagnosis and treatment of Fabry disease has been greatly stimulated by the availability of Food and Drug Administration-approved, effective enzyme-replacement therapy. This review will update the progress in this area over the last 18 months that effective enzyme-replacement therapy has become available. RECENT FINDINGS:Fabry disease is often associated with proteinuric chronic kidney disease, and it appears that the treatment paradigms that have proven to be so effective in diabetes mellitus and other forms of proteinuric renal disease are also effective, in conjunction with enzyme-replacement therapy for treating the renal manifestations of Fabry disease. As such, Fabry disease represents an interesting example of progressive proteinuric renal disease in which the usual blood pressure is lower than in other renal diseases. This makes the use of effective anti-proteinuric therapy challenging, especially considering the autonomic dysfunction that appears to be part of the disease. Recent advances are considered in this review, with emphasis on the role of kidney biopsy, effective dosing and maximal comprehensive therapy of Fabry disease. SUMMARY: Maximal, comprehensive therapy for Fabry disease includes effective enzyme-replacement therapy and all of the adjunctive therapies that are currently used to treat all forms of proteinuric chronic kidney disease. It is anticipated that this approach will preserve kidney function and also benefit the cardiac and cerebrovascular systems in patients with Fabry disease.
Authors: Raphael Schiffmann; Hasan Askari; Margaret Timmons; Chevalia Robinson; William Benko; Roscoe O Brady; Markus Ries Journal: J Am Soc Nephrol Date: 2007-04-04 Impact factor: 10.121