caa a22 4500 445882816 CHVBK 20180317145549.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10157-011-0486-1 doi (NATIONALLICENCE)springer-10.1007/s10157-011-0486-1 Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R) [Elektronische Daten] [Keisuke Suzuki, Naoto Miura, Wataru Kitagawa, Shinkichi Suzuki, Atsushi Komatsuda, Kazuhiro Nishikawa, Daisuke Watanabe, Hirokazu Imai] A 37-year-old Japanese man affected by Fabry disease secondary to a novel mutation of Leu311Arg (L311R) in α-galactosidase demonstrated progressive renal failure despite biweekly enzyme replacement therapy (ERT) for approximately 10years. Kidney biopsy revealed foamy glomerular epithelial cells, compatible with the typical pathologic features of Fabry disease. The patient entered a phase III study of Replagal® (agalsidase alfa) in 2001, allowing him to continue ERT with biweekly dosing for almost 10years. During 2years of that period, he was continued on Fabrazyme® (agalsidase beta) biweekly dosing. His estimated GFR was calculated to decrease by 9.9mL/min/1.73m2 per year. Patients with Fabry disease have been reported to have a mean decrease in GFR of 12.2±8.1mL/min/1.73m2 per year. This result suggests that biweekly ERT is only mildly effective at preventing loss of kidney function. Japanese Society of Nephrology, 2011 α-Galactosidase nationallicence Enzyme replacement therapy nationallicence Fabry disease nationallicence Leu311Arg (L311R) nationallicence Progressive renal failure nationallicence Suzuki Keisuke Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Miura Naoto Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Kitagawa Wataru Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Suzuki Shinkichi Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Komatsuda Atsushi Third Department of Internal Medicine, Akita University School of Medicine, Akita, Japan aut Nishikawa Kazuhiro Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Watanabe Daisuke Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, Japan aut Imai Hirokazu Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut Clinical and Experimental Nephrology Springer Japan 15/6(2011-12-01), 916-920 1342-1751 15:6<916 2011 15 10157 https://doi.org/10.1007/s10157-011-0486-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-011-0486-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Suzuki Keisuke Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Miura Naoto Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Kitagawa Wataru Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Suzuki Shinkichi Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Komatsuda Atsushi Third Department of Internal Medicine, Akita University School of Medicine, Akita, Japan aut NATIONALLICENCE 700 1- Nishikawa Kazuhiro Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Watanabe Daisuke Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, Japan aut NATIONALLICENCE 700 1- Imai Hirokazu Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 480-1195, Nagakute, Aichi, Japan aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/6(2011-12-01), 916-920 1342-1751 15:6<916 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer