Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment
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戈谢病：骨并发症及其治疗反应的系统回顾和荟萃分析
DOI：
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发表时间：
2008
影响因子：
4.2
通讯作者：
D. Amato
中科院分区：
文献类型：
--
作者：
Siavash Piran;D. Amato
1型戈谢病（GD1）是一种遗传性溶酶体贮积病，通常通过酶替代疗法（ERT）进行治疗。骨对ERT的反应通常比内脏和血液反应慢。增加ERT的剂量是否有有益的效果还不确定。我们研究的目的是确定是否有足够的证据来确定ERT和底物还原疗法（SRT）对GD1骨髓浸润和骨矿物质密度（BMD）的影响。我们对2008年7月前发表的所有研究进行了系统回顾，研究ERT和SRT对GD1骨并发症的影响。这些研究是通过使用Medline、Embase、Cochrane系统评价数据库、Cochrane中央对照试验登记册（CCTR）以及随后从检索中检索到的论文书目进行计算机检索确定的。300项研究根据它们是否涉及GD1的自然史或治疗问题进行分组，其中17项研究被纳入综述。我们系统综述的结果表明，需要进一步的研究，如更好地分析Gaucher Registry，来研究ERT和SRT对GD1骨并发症的影响。新发现的velaglucerase和植物源性葡萄糖脑苷酶对GD1骨性并发症的影响也需要进一步研究。
Type 1 Gaucher disease (GD1) is an inherited lysosomal storage disease, which is often managed by enzyme replacement therapy (ERT). The bone response to ERT is usually slower than visceral and hematological responses. There is uncertainty as to whether an increase in the dosage of ERT has a beneficial effect. The aim of our study was to determine whether or not there is sufficient evidence to make a definitive statement about the effects of ERT and substrate reduction therapy (SRT) on bone marrow infiltration and bone mineral density (BMD) in GD1. We conducted a systematic review of all studies examining the effects of ERT and SRT on bony complications of GD1 published before July 2008. The studies were identified by a computerized search with use of Medline, Embase, The Cochrane Database of Systematic Reviews, The Cochrane Central Register of Controlled Trials (CCTR), and bibliographies of papers subsequently retrieved from the search. Three hundred studies were grouped according to whether they deal with the natural history of GD1 or therapeutic issues, and 17 studies were included in the review. The results from our systematic review suggest that further investigations, such as better analysis of the Gaucher Registry, are needed on the effects of ERT and SRT on bony complications of GD1. Studies on the effects of the newly identified velaglucerase and the plant-derived glucocerebrosidase on bony complications of GD1 are also needed.
已治疗和未治疗的戈谢病的临床病程。
DOI：
10.1006/bcmd.1995.0012
发表时间：
1995
期刊：
Blood cells, molecules & diseases
影响因子：
--
作者：
Beutler,E;Demina,A;Laubscher,K;Garver,P;Gelbart,T;Balicki,D;Vaughan,L
通讯作者：
Vaughan,L
戈谢病 1 型酶疗法：33 名患者治疗 6 至 24 个月的剂量疗效和不良反应。
影响因子：
20.3
作者：
Pastores,GM;Sibille,AR;Grabowski,GA
通讯作者：
Grabowski,GA