BACKGROUND AND OBJECTIVES: These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Data from the Fabry Registry for 462 untreated adults (121 men and 341 women) who had at least two estimated GFR (eGFR) values over a span of ≥12 months before starting enzyme replacement therapy were included. RESULTS: Most men (86 of 121, 71%) had more rapid loss of kidney function than the normal adult population (loss of eGFR > -1 ml/min per 1.73 m(2) per year), whereas fewer women (133 of 341, 39%) had rapid loss of kidney function. Patients with rapid progression had significantly higher mean averaged urinary protein to urinary creatinine ratios (UP/Cr) than patients with slower progression (1.5 versus 0.2 for men; 1.4 versus 0.5 for women; P < 0.0001). Patients were grouped into quartiles based on averaged UP/Cr; renal function in men declined more rapidly with higher UP/Cr, with the steepest declines observed in men with UP/Cr > 1.5 (mean eGFR slope, -5.6 ml/min per 1.73 m(2) per year; n = 30). eGFR slope declined more slowly in women, with the steepest declines observed in women with UP/Cr > 1.2 (mean eGFR slope, -1.3 ml/min per 1.73 m(2) per year; n = 85). Regression models of eGFR slope indicated that UP/Cr is the most important indicator of renal disease progression in adult Fabry patients. In women, lower baseline eGFR and age were also associated with renal disease progression. Women who had clinical events had more rapid loss of kidney function. CONCLUSIONS: Urinary protein excretion is strongly associated with renal disease progression in men and women with Fabry disease.
BACKGROUND AND OBJECTIVES: These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Data from the Fabry Registry for 462 untreated adults (121 men and 341 women) who had at least two estimated GFR (eGFR) values over a span of ≥12 months before starting enzyme replacement therapy were included. RESULTS: Most men (86 of 121, 71%) had more rapid loss of kidney function than the normal adult population (loss of eGFR > -1 ml/min per 1.73 m(2) per year), whereas fewer women (133 of 341, 39%) had rapid loss of kidney function. Patients with rapid progression had significantly higher mean averaged urinary protein to urinary creatinine ratios (UP/Cr) than patients with slower progression (1.5 versus 0.2 for men; 1.4 versus 0.5 for women; P < 0.0001). Patients were grouped into quartiles based on averaged UP/Cr; renal function in men declined more rapidly with higher UP/Cr, with the steepest declines observed in men with UP/Cr > 1.5 (mean eGFR slope, -5.6 ml/min per 1.73 m(2) per year; n = 30). eGFR slope declined more slowly in women, with the steepest declines observed in women with UP/Cr > 1.2 (mean eGFR slope, -1.3 ml/min per 1.73 m(2) per year; n = 85). Regression models of eGFR slope indicated that UP/Cr is the most important indicator of renal disease progression in adult Fabry patients. In women, lower baseline eGFR and age were also associated with renal disease progression. Women who had clinical events had more rapid loss of kidney function. CONCLUSIONS: Urinary protein excretion is strongly associated with renal disease progression in men and women with Fabry disease.
Authors: Mary H Branton; Raphael Schiffmann; Sharda G Sabnis; Gary J Murray; Jane M Quirk; Gheona Altarescu; Lev Goldfarb; Roscoe O Brady; James E Balow; Howard A Austin Iii; Jeffrey B Kopp Journal: Medicine (Baltimore) Date: 2002-03 Impact factor: 1.889
Authors: Beth L Thurberg; Helmut Rennke; Robert B Colvin; Steven Dikman; Ronald E Gordon; A Bernard Collins; Robert J Desnick; Michael O'Callaghan Journal: Kidney Int Date: 2002-12 Impact factor: 10.612
Authors: Agnes B Fogo; Leif Bostad; Einar Svarstad; William J Cook; Solange Moll; Federic Barbey; Laurette Geldenhuys; Michael West; Dusan Ferluga; Bojan Vujkovac; Alexander J Howie; Aine Burns; Roy Reeve; Stephen Waldek; Laure-Hélène Noël; Jean-Pierre Grünfeld; Carmen Valbuena; João Paulo Oliveira; Justus Müller; Frank Breunig; Xiao Zhang; David G Warnock Journal: Nephrol Dial Transplant Date: 2009-10-15 Impact factor: 5.992
Authors: Andrew D Rule; Hiie M Gussak; Gregory R Pond; Erik J Bergstralh; Mark D Stegall; Fernando G Cosio; Timothy S Larson Journal: Am J Kidney Dis Date: 2004-01 Impact factor: 8.860
Authors: William R Wilcox; Maryam Banikazemi; Nathalie Guffon; Stephen Waldek; Philip Lee; Gabor E Linthorst; Robert J Desnick; Dominique P Germain Journal: Am J Hum Genet Date: 2004-05-20 Impact factor: 11.025
Authors: Mark J Sarnak; Andrew S Levey; Anton C Schoolwerth; Josef Coresh; Bruce Culleton; L Lee Hamm; Peter A McCullough; Bertram L Kasiske; Ellie Kelepouris; Michael J Klag; Patrick Parfrey; Marc Pfeffer; Leopoldo Raij; David J Spinosa; Peter W Wilson Journal: Circulation Date: 2003-10-28 Impact factor: 29.690
Authors: Haochang Shou; Jesse Y Hsu; Dawei Xie; Wei Yang; Jason Roy; Amanda H Anderson; J Richard Landis; Harold I Feldman; Afshin Parsa; Christopher Jepson Journal: Clin J Am Soc Nephrol Date: 2017-07-27 Impact factor: 8.237
Authors: Saskia M Rombach; Bouwien E Smid; Gabor E Linthorst; Marcel G W Dijkgraaf; Carla E M Hollak Journal: J Inherit Metab Dis Date: 2014-02-04 Impact factor: 4.982
Authors: Sandro Feriozzi; Joan Torras; Markus Cybulla; Kathy Nicholls; Gere Sunder-Plassmann; Michael West Journal: Clin J Am Soc Nephrol Date: 2012-01 Impact factor: 8.237
Authors: Brendan N Putko; Kevin Wen; Richard B Thompson; John Mullen; Miriam Shanks; Haran Yogasundaram; Consolato Sergi; Gavin Y Oudit Journal: Heart Fail Rev Date: 2015-03 Impact factor: 4.214