Enzyme replacement therapy in adult patients with type I Gaucher disease
نویسندگان
چکیده
منابع مشابه
Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy.
In Gaucher disease type I (GD, OMIM #230800), deficient activity of the enzyme glucocerebrosidase results in hepatosplenomegaly, cytopenia and skeletal disease. Skeletal disease leads to chronic bone pain and/or severe complications such as pathological fractures, avascular necrosis and bone crises. Enzyme Replacement Therapy symptoms of the disease with doses ranging between 15 and 120 U/kg/4w...
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 کاملBiochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
BACKGROUND We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT. METHODS Seventeen GD1 patients were included (n = 6 eliglustat, (two switched from ERT), n = 9 miglustat (seven switchers), n = 4 ERT (median dose 60U/kg/m). Plasma protein markers reflecting disease burden (...
متن کاملImpaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: partial correction by enzyme replacement therapy.
The higher susceptibility to serious bacterial infections in patients with Gaucher disease (GD) may be due in part to defective function of phagocytic cells. We studied five patients with GD (type I) and examined the ability of granulocytes and mononuclear phagocytes from these patients to phagocytose and kill Staphylococcus aureus and to generate superoxide anion (O2-) on stimulation with full...
متن کاملEnzyme Replacement in Gaucher Disease
118 Gaucher disease is the most common lysosomal storage disorder (Box 1). A defi ciency of the enzyme glucocerebrosidase (Figure 1) causes accumulation of the glycolipid glucocerebroside in macrophages throughout the body. In the viscera, glucocerebroside arises mainly from the biodegradation of red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipid...
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ژورنال
عنوان ژورنال: Terapevticheskii arkhiv
سال: 2019
ISSN: 2309-5342,0040-3660
DOI: 10.26442/00403660.2019.07.000327