Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy

• Type: Article in International Scientific Journal
• Date: 2010

Authors

Mignani, R (Author) Other; Feriozzi, S (Author) Other; Schaefer, RM (Author) Other; Breunig, F (Author) Other; João Paulo Oliveira (Author) FMUP; Ruggenenti, P (Author) Other; Sunder Plassmann, G (Author) Other

Journal

Title: Clinical journal of the American Society of Nephrology : CJASN

Vol. 5 No. 2

Pages: 379-385

ISSN: 1555-9041

Publisher: American Society of Nephrology

Indexing

ISI Web of Knowledge - 26 Citations

Scopus - 30 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-003-99A

DOI: 10.2215/cjn.05570809

Abstract (EN): ESRD is a major cause of morbidity and premature mortality in Fabry disease, particularly in classically affected males. The decline of renal function in Fabry nephropathy is adversely affected by male gender, advanced chronic kidney disease (CKD), and severe proteinuria. The diagnosis of Fabry nephropathy may be missed if not specifically addressed in progressive CKD and patients have been first identified in screening programs of dialysis patients. Fabry patients have worse 3-year survival rates on dialysis as compared with nondiabetic controls. The 5-year survival rate of transplanted Fabry patients is also lower than that of controls. However, because Fabry nephropathy does not recur in the allograft and transplanted Fabry patients appear to have better overall outcomes than those maintained on dialysis, kidney transplantation should be recommended as a first choice in renal replacement therapy (RRT) for Fabry disease. Appropriately designed and powered studies are not available to answer the question whether enzyme replacement therapy (ERT) influences outcomes, the course of cardiomyopathy, events, or survival in Fabry patients on RRT. The authors are not aware of compelling indications for ERT in RRT patients because progression of cardiomyopathy was documented during ERT. Whether the excess mortality risk of Fabry patients on RRT can be prevented by ERT is unknown. Despite observational reports of symptomatic improvement, the available evidence supporting ERT for such patients is not compelling enough. To clarify this issue, studies are needed to test the effectiveness of agalsidases in preventing cardiac and cerebrovascular complications in Fabry patients with ESRD. Clin J Am Soc Nephrol 5: 379-385, 2010. doi: 10.2215/CJN.05570809

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7