Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-07-15

AUTHORS

Keisuke Suzuki, Naoto Miura, Wataru Kitagawa, Shinkichi Suzuki, Atsushi Komatsuda, Kazuhiro Nishikawa, Daisuke Watanabe, Hirokazu Imai

ABSTRACT

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® (agalsidase alfa) in 2001, allowing him to continue ERT with biweekly dosing for almost 10 years. During 2 years of that period, he was continued on Fabrazyme® (agalsidase beta) biweekly dosing. His estimated GFR was calculated to decrease by 9.9 mL/min/1.73 m2 per year. Patients with Fabry disease have been reported to have a mean decrease in GFR of 12.2 ± 8.1 mL/min/1.73 m2 per year. This result suggests that biweekly ERT is only mildly effective at preventing loss of kidney function. More... »

PAGES

916-920

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10157-011-0486-1

DOI

http://dx.doi.org/10.1007/s10157-011-0486-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045038761

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21755431


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