Enzyme Replacement Therapy for 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 for Fabry disease: proving the clinical benefit.
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme a-galactosidase A (a-Gal A). The lack of a-Gal A leads to incomplete metabolism and progressive lysosomal accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3). This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerula...
متن کاملCost-effectiveness of enzyme replacement therapy for Fabry disease
BACKGROUND The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease. METHODS Cost-effectiveness analysis was performed using a life-time state-transition model. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch st...
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 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: Journal of Inborn Errors of Metabolism and Screening
سال: 2016
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409816679428