Article
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).
Clinical and experimental nephrology - 1 Dec 2011
Suzuki Keisuke, Miura Naoto, Kitagawa Wataru, Suzuki Shinkichi, Komatsuda Atsushi, Nishikawa Kazuhiro, Watanabe Daisuke, Imai Hirokazu
Abstract excerpt
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 10 years. 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...
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