Enzyme Replacement Therapy and Fabry Kidney Disease: Quo Vadis?
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy and Fabry kidney disease: quo vadis?
T he advent of effective enzyme replacement therapy (ERT) has kindled considerable interest in Fabry disease; ERT offers the promise of altering the natural history of this unusual form of proteinuric chronic kidney disease (CKD). Fabry disease is a rare, X-linked, lysosomal storage disorder caused by deficient activity of the lysosomal enzyme -galactosidase A, with accumulation of its substrat...
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 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 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 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...
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 the American Society of Nephrology
سال: 2007
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2007030312