混合供体嵌合体和低水平艾杜糖醛酸酶表达可能足以对黏多糖贮积症I型提供神经发育保护。
Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
作者信息
Conway Jennifer, Dyack Sarah, Crooks Bruce N A, Fernandez Conrad V
机构信息
Department of Pediatrics, Division of Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada.
出版信息
J Pediatr. 2005 Jul;147(1):106-8. doi: 10.1016/j.jpeds.2005.03.005.
PMID:16027706
Abstract
Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronidase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4-year, 6-month-old boy with mixed donor chimerism and low enzyme levels but a normal neurodevelopmental trajectory.
摘要
黏多糖贮积症Ⅰ型是一种溶酶体贮积病，若不通过造血干细胞移植重建α-L-艾杜糖醛酸酶的产生，会导致致命的心脏或神经后遗症。我们报告了一名4岁6个月大的男孩，他具有混合供体嵌合现象且酶水平较低，但神经发育轨迹正常。
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