Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy
Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy
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DOI：
10.1016/j.cccn.2004.02.018
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发表时间：
2004-06-01
影响因子：
5
通讯作者：
Barranger, JA
中科院分区：
文献类型：
--
作者：
Cabera-Salazar, MA;O'Rourke, E;Barranger, JA
背景：溶酶体储存障碍中细胞碎片的过度储存会触发多种细胞反应。其中一些反应是不适应的，导致了这些疾病的病理。在某种程度上，细胞反应是针对储存的物质的，这影响了疾病的病理生理学，并导致了疾病的一些特征。方法：利用现有的酶分析方法收集高谢病三种生化(替代)标志物：血管紧张素转换酶(ACE)、抗酒石酸酸性磷酸酶(TRAP)和壳三糖苷酶(Chito)的大量数据。在18名患者中收集了随访数据。结果：这三项指标相互关联，是反映疾病进展和对酶替代疗法(ERT)反应的有用指标。对临床记录进行回顾性分析，并将甲壳三糖酶值与基线严重程度评分指数(SSI)进行比较，可以在评估长期ERT(>；24个月)时预测该标志物的反应模式。结论：长期ERT后，受影响较轻的患者更有可能使其几丁糖苷酶活性恢复正常。(C)2004年，爱思唯尔出版。
Background: The excessive storage of cellular debris in the lysosomal storage disorders triggers a variety of cellular responses. Some of these responses are maladaptative and result in the pathology of these diseases. To some extent, cellular responses are specific to the stored material, which influences the pathophysiology of the disease and results in some of its characteristic features. Methods: A large body of data has been collected for three biochemical (surrogate) markers of Gaucher Disease: angiotensin converting enzyme (ACE), tartrate-resistant acid phosphatase (TRAP) and chitotriosidase (CHITO) using currently available enzyme analysis. Follow up data was gathered in a group of 18 patients. Results: The three markers are correlated between each other and are useful indicators of the disease progress and its response to enzyme replacement therapy (ERT). Retrospective analysis of clinical records and comparison of chitotriosidase values with the baseline Severity Score Index (SSI) allowed prediction of the response patterns for this marker when long-term ERT (>24 months) was evaluated. Conclusions: The less severely affected patients are more likely to normalize their chitotriosidase activities after long term ERT. (C) 2004 Published by Elsevier B.V.