Progression of Fabry Cardiomyopathy Despite Enzyme Replacement Therapy
نویسندگان
چکیده
منابع مشابه
Progression of Fabry cardiomyopathy despite enzyme replacement therapy.
Maurizio Pieroni, Antonia Camporeale, Roberta Della Bona, Alessandra Sabini, Deborah Progression of Fabry Cardiomyopathy Despite Enzyme Replacement Therapy Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 2013 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation doi: 10.1161/CIRCULATIO...
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A 53-year-old asymptomatic man with no family history of Fabry disease or hypertrophic cardiomyopathy (HCM) exhibited increased ECG voltages (Figure [A]) and primary cardiac hypertrophy (left ventricular maximal wall thickness 16 mm and myocardial mass 163.2 g) with preserved contractility at cardiac magnetic resonance (Figure [D]). He was diagnosed in 2006 to be affected by Fabry disease cardi...
متن کاملGenetic variants associated with Fabry disease progression despite enzyme replacement therapy
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorptio...
متن کاملEnzyme replacement therapy for Anderson-Fabry disease.
BACKGROUND Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. OBJECTIVES To evaluate the effectiveness and safety of enzyme replacement therapy compare...
متن کاملEnzyme replacement therapy and Fabry nephropathy.
Involvement of the kidneys in Fabry disease ("nephropathy") occurs in male and female individuals. The majority of patients with progressive nephropathy will have significant proteinuria and develop progressive loss of kidney function, leading to ESRD. All too often, treating physicians may ignore "normal" serum creatinine levels or "minimal" proteinuria and fail to assess properly the severity...
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ژورنال
عنوان ژورنال: Circulation
سال: 2013
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circulationaha.113.002799