Lung involvement and enzyme replacement therapy in Gaucher's disease
نویسندگان
چکیده
منابع مشابه
Fabry 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 (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملEnzyme replacement therapy for Gaucher disease.
Gaucher disease is the most common lysosomal storage disease, and the first lysosomal storage disease for which a specific therapy has been developed. Enzyme replacement therapy, with glucocerebrosidase purified from human placentae, was introduced in 1991. Recombinant human glucocerebrosidase, produced by Chinese hamster ovary cells in tissue culture, became available in 1994 and has replaced ...
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 کامل[Enzyme replacement therapy for Gaucher's Disease].
Modified placental human glucocerebrosidase (alglucerase) and recombinant glucocerebrosidase (imiglucerase) are effective means of treating Type 1 Gaucher's disease. Amelioration of hepatosplenomegaly and of haematological manifestations is usually apparent within 6 months. Bone disease responds more slowly but within several years improvement is evident in most patients. Analysis of a large bo...
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ژورنال
عنوان ژورنال: QJM
سال: 2001
ISSN: 1460-2393
DOI: 10.1093/qjmed/94.8.407