New directions in the treatment of Gaucher disease

被引:83
作者
Futerman, AH [1 ]
Sussman, JL
Horowitz, M
Silman, I
Zimran, A
机构
[1] Weizmann Inst Sci, Dept Biol Chem, IL-76100 Rehovot, Israel
[2] Weizmann Inst Sci, Dept Biol Struct, IL-76100 Rehovot, Israel
[3] Tel Aviv Univ, Dept Cell Biol & Immunol, IL-69978 Ramat Aviv, Israel
[4] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel
[5] Shaare Zedek Med Ctr, Gaucher Clin, IL-91031 Jerusalem, Israel
关键词
D O I
10.1016/j.tips.2004.01.004
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
Gaucher disease, an inherited metabolic disorder caused by mutations in the gene encoding acid-p-glucosidase (GlcCerase), is a multi-system disease whose manifestations include anemia, thrombocytopenia, hepatosplenomegaly, bone pathology and, in some cases, neurological signs. Enzyme replacement therapy (ERT) using recombinant GlcCerase (Cerezyme(R)) alleviates many disease symptoms and is used by similar to3000 patients worldwide, and substrate-reduction therapy (SRT) using the glycolipid synthesis inhibitor N-butyldeoxynojirimycin [NB-DNJ (Zavesca(R))] has been approved recently for patients for whom ERT is unsuitable. It is our opinion that a multiplicity of treatment strategies is required for the management of Gaucher disease. In this article, we discuss the pros and cons of currently available treatments, and suggest complementary therapies arising from the determination of the X-ray structure of Cerezyme(R) and from delineation of secondary biochemical pathways affected in Gaucher disease.
引用
收藏
页码:147 / 151
页数:5
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