Enzyme Replacement Therapy in Fabry Disease
نویسندگان
چکیده
منابع مشابه
Enzyme 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 کاملAnderson-Fabry disease: enzyme replacement therapy.
Sir, Anderson-Fabry disease is a metabolic lysosomal storage disease caused by a deficiency of the enzyme a-galactosidase A and inherited as an X-linked recessive trait. The progressive accumulation of glycosphingolipids (globotriaosylceramide, GB3) in blood, vessels and cells from several organs and tissues causes significant multi-systemic damage in homozygous males and in carrier females. Fo...
متن کاملEnzyme replacement therapy in Fabry disease: a randomized controlled trial.
CONTEXT Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease. OBJECTIVE To evaluate the safety and efficacy of intravenous alpha-gal A for F...
متن کاملFabry disease: kidney involvement and enzyme replacement therapy.
CASE PRESENTATIONS Patient 1. A 50-year-old man with end-stage renal disease (ESRD) possibly secondary to Fabry disease commenced chronic ambulatory peritoneal dialysis (CAPD) 19 months ago. In childhood he presented with acroparesthesias and pain crises with fever, which were considered to be of psychosomatic origin. Remission of the symptoms occurred when he was 15 years old, but he continued...
متن کاملParadoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy.
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JAMA
سال: 2001
ISSN: 0098-7484
DOI: 10.1001/jama.285.21.2743