酶替代疗法与黏多糖贮积症Hurler 综合征患者移植后的认知结果改善相关。
Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome.
机构信息
Department of Pediatrics, Division of Pediatric Clinical Neuroscience, University of Minnesota, Minneapolis, MN, USA.
出版信息
J Pediatr. 2013 Feb;162(2):375-80.e1. doi: 10.1016/j.jpeds.2012.07.052. Epub 2012 Sep 10.
Abstract
OBJECTIVE
To investigate whether intravenous enzyme replacement therapy (ERT) benefits cognitive function in patients with mucopolysaccharidosis type IH (Hurler syndrome) undergoing hematopoietic cell transplantation (HCT).
STUDY DESIGN
Data were obtained for 9 children treated with HCT + ERT (ERT group) and 10 children treated with HCT only (no-ERT group) from neuropsychologic evaluations before HCT and at 1-year and 2-year post-HCT follow-up.
RESULTS
At 2 years after HCT, children in the ERT group lost 9.19 fewer IQ points per year compared with children in the no-ERT group (P = .031). Furthermore, the ERT group improved in nonverbal problem solving and processing, whereas the no-ERT group declined, resulting in a difference of 9.44 points per year between the 2 groups (P < .001).
CONCLUSION
ERT in association with HCT enhances cognitive outcomes, providing new evidence that ERT is a valuable addition to the standard transplantation protocol. Although the mechanism responsible for this improved outcome is unknown, both direct benefits and indirect effects must be considered.
摘要
目的
研究接受造血细胞移植（HCT）治疗的黏多糖贮积症 IH 型（Hurler 综合征）患者中，静脉内酶替代疗法（ERT）是否有益于认知功能。
研究设计
从 HCT 前以及 HCT 后 1 年和 2 年的神经心理评估中，获取了 9 名接受 HCT+ERT（ERT 组）治疗和 10 名接受单纯 HCT（无-ERT 组）治疗的儿童的数据。
结果
HCT 后 2 年时，ERT 组每年的智商损失比无-ERT 组少 9.19 分（P=0.031）。此外，ERT 组在非言语问题解决和处理方面有所改善，而无-ERT 组则有所下降，两组之间每年相差 9.44 分（P＜0.001）。
结论
ERT 联合 HCT 可增强认知结局，为 ERT 是标准移植方案的有价值补充提供了新证据。尽管导致这种改善结果的机制尚不清楚，但必须考虑直接获益和间接效应。
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