End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
Nephrology Dialysis Transplantation, 11/05/2009
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Ortiz A et al. – While all Fabry patients are at risk of cardiovascular events and strokes, patients with Fabry nephropathy who develop kidney failure appear to have concurrent involvement of ... important that Fabry patients are diagnosed early and that their renal function is monitored carefully.
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Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)
Nephrology Dialysis Transplantation, 10/16/2009
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Fogo AB et al. – The development of a standardized scoring system of both disease–specific lesions, i.e. lipid deposition related, and general lesions of ... clinical stage of Fabry nephropathy. These findings support the role of kidney biopsy in the baseline evaluation of Fabry nephropathy, even with mild clinical disease. The scoring system will be useful for longitudinal assessment of prognosis and responses to therapy for Fabry nephropathy
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Functional and structural nerve fiber findings in heterozygote patients with Fabry disease
Pain, 08/12/2009
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Moller AT et al. – Fabry disease is an X–linked inherited lysosomal disorder with dysfunction of the lysosomal enzyme ?–galactosidase A causing accumulation of glycolipids in multiple ... patients with Fabry disease and 19 sex– and age–matched controls...The authors found no correlation between pain VAS score, quantitative sensory testing and intraepidermal nerve fiber density. This study demonstrates that careful evaluation of symptoms in female Fabry patients is ... fiber disease manifestations are present, which in some cases is only detected by skin biopsy.
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Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease
European Heart Journal, 09/28/2009
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Brakch N et al. – Sphingosine–1 phosphate participates in cardiovascular remodelling in Fabry disease. These findings have implications for the treatment of cardiovascular involvement in Fabry disease.
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Effect of agalsidase alfa replacement therapy on fabry disease—related hypertrophic cardiomyopathy: A 12- to 36-month, retrospective, blinded echocardiographic pooled analysis
Clinical Therapeutics, 10/29/2009
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Kampmann C et al. – Treatment with agalsidase alfa for 12 or 36 months was associated with reduced LVM in these patients with Fabry disease with baseline ... appeared to stabilize LVM in these patients without baseline LVH.
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Aortic remodelling in Fabry disease
European Heart Journal, 10/26/2009
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Barbey F et al. – Fabry disease should be considered as a cardiovascular disease that affects the heart and arterial vasculature, including the thoracic aorta. Thus, patients with FD should be closely monitored for the presence, and possible progression ... aortic dilation.
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Shire Targets Fourth Quarter Filing of BLA for REPLAGAL? for Fabry Disease with U.S. FDA
Shire, 10/22/2009
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Shire plc, the global specialty biopharmaceutical company, announces plans to file a Biologics License Application with the U.S. Food and Drug Administration for REPLAGAL, its enzyme replacement therapy for Fabry disease, by the end of the year
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A case of minimal change disease in a Fabry patient
Pediatric Nephrology, 11/04/2009
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Zarate YA et al. – The authors recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of
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Prevalence and Cardiovascular Features of Japanese Hemodialysis Patients with Fabry Disease
American Journal of Nephrology, 10/16/2009
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Fujii H et al. – Measurement of the alpha–galactosidase A activity and the results of a genetic analysis indicated that the prevalence of FD in our hemodialysis patients was 0.29% (0.16% in men ... cardiovascular abnormalities in Japanese hemodialysis patients with FD.
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Screening for Fabry disease in high risk populations: a systematic review
Journal of Medical Genetics, 10/12/2009
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Linthorst GE et al. – Prevalence of FD in dialysis patients is 0.33% for males and 0.10% for females. Prevalence of FD in LVH is at least 1% for both genders. In females most studies were performed with aGal A activity ... as screening tool, although this method fails to detect 1/3 of female patients with FD, underestimating the overall prevalence in females.
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