Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
نویسندگان
چکیده
of glucosylceramide and glucosylsphingosine in lysosomes of tissue macrophages and consequently leads to multisystemic manifestations. Clinical symptoms of GD1 include hepatosplenomegaly, anemia, thrombocytopenia, pulmonary diseases, immune dysfunction and bone disease. The diagnosis of GD1 is confirmed by demonstrating decreased activity of acid β-glucosidase in leukocytes and/or by molecular analysis of the Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
منابع مشابه
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report
BACKGROUND Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult pati...
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Gaucher disease is a progressive lysosomal storage disorder caused by the deficiency of glucocerebrosidase, and characterized by intralysosomal storage of glucosylceramide that leads to dysfunction in multiple organ systems. Intravenous enzyme replacement with imiglucerase is the accepted standard for treatment of symptomatic patients and has been effective in reducing many of the signs and sym...
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INTRODUCTION Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for th...
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Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...
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BACKGROUND Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short ...
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