Journal ArticleDOI
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy
Alberto Ortiz,João Paulo Oliveira,S. Waldek,David G. Warnock,Bruno Cianciaruso,Christoph Wanner +5 more
TLDR
It is confirmed that a significant proportion of females suffer moderate to severe kidney involvement in Fabry disease and proteinuria values were significantly correlated with systolic blood pressure in both sexes.Abstract:
Background. Fabry disease, an X-linked genetic disorder with deficient α-galactosidase A activity, is characterized by kidney disease and kidney failure. The spectrum of kidney disease has not been well defined, especially in female patients. Methods. We did a cross-sectional retrospective analysis of natural history of glomerular filtration rate (estimated— eGFR), albuminuria and proteinuria in 1262 adult patients (585 males, 677 females) from the Fabry Registry. Results. Twenty-eight percent of males (age 20–79 years) and 13% of females (age 20–82 years) had chronic kidney disease (CKD) with eGFR 300 mg/24 h) was demonstrated in 43 and 26% of males and females with CKD stage 1, respectively, and the proportions were higher with more severe kidney involvement. However, 11% of males and 28% of females with eGFR 30 mg/24 h. Systemic blood pressure was ≥130/80 mmHg in 48% and 67% of patients with eGFR ≥ and <60 ml/min/1.73 m 2 , respectively, with no significant differences between males and females. Proteinuria values were significantly correlated with systolic blood pressure in both sexes. Conclusions. Kidney involvement in Fabry disease is more prevalent and heterogeneous than previously reported. Proteinuria is an early complication, but may not be overt in patients with advanced kidney disease. This analysis, which includes more females than males, confirms that a significant proportion of females suffer moderate to severe kidney involvement in Fabry disease.read more
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Journal ArticleDOI
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz,Dominique P. Germain,Robert J. Desnick,Juan Politei,Michael Mauer,Alessandro P. Burlina,Christine M. Eng,Robert J. Hopkin,Dawn Laney,Aleš Linhart,Stephen Waldek,Eric Wallace,Frank Weidemann,William R. Wilcox +13 more
TL;DR: Management of adult patients with Fabry disease depends on a personalized approach to care, reflecting the natural history of the specific disease phenotype, as well as thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients.
Journal ArticleDOI
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
Raphael Schiffmann,David G. Warnock,Maryam Banikazemi,Jan Bultas,Gabor E. Linthorst,Seymour Packman,Sven Asger Sørensen,William R. Wilcox,Robert J. Desnick +8 more
TL;DR: In this article, a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe) was conducted, where the pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.
Journal ArticleDOI
Fabry's Disease
TL;DR: This review covers all basic aspects of Fabry's disease such as epidemiology, pathophysiology, clinical presentation by systems, diagnosis, management, prevention, and repercussions on quality of life.
Journal ArticleDOI
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Derralynn Hughes,Kathleen Nicholls,Suma P. Shankar,Gere Sunder-Plassmann,David M. Koeller,Khan Nedd,Gerard Vockley,Takashi Hamazaki,Robin H. Lachmann,Toya Ohashi,Iacopo Olivotto,Norio Sakai,Patrick Deegan,David Dimmock,François Eyskens,Dominique P. Germain,Ozlem Goker-Alpan,Eric Hachulla,Ana Jovanovic,Charles Marques Lourenço,Ichiei Narita,Mark Thomas,William R. Wilcox,Daniel G. Bichet,Raphael Schiffmann,Elizabeth Ludington,Christopher Viereck,John Kirk,Julie Yu,Franklin K. Johnson,Pol Boudes,Elfrida R. Benjamin,David J. Lockhart,Carrolee Barlow,Nina Skuban,Jeffrey P. Castelli,Jay A. Barth,Ulla Feldt-Rasmussen +37 more
TL;DR: Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations.
Journal ArticleDOI
Long‐term outcome of enzyme‐replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
Frank Weidemann,Markus Niemann,Stefan Störk,Frank Breunig,Meinrad Beer,Claudia Sommer,Sebastian Herrmann,Georg Ertl,Christoph Wanner +8 more
TL;DR: Whether ERT in patients with advanced Fabry disease affects progression towards ‘hard’ clinical end‐points in comparison with the natural course of the disease is determined.
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