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Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2019-12-11 , DOI: 10.1038/s10038-019-0704-3 Wenjun Jiang 1 , Mengni Yi 1 , Gustavo H B Maegawa 2 , Huiwen Zhang 1
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2019-12-11 , DOI: 10.1038/s10038-019-0704-3 Wenjun Jiang 1 , Mengni Yi 1 , Gustavo H B Maegawa 2 , Huiwen Zhang 1
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Gaucher disease (GD) is a lysosomal storage disease caused by the deficiency of glucocerebrosidase characterized by a broad spectrum of clinical manifestations including hepatosplenomegaly, bone infiltration, and cytopenia, and even central nervous system involvement. Bone manifestations are typical of the GD-I and partially responded to mainstay therapy. Ambroxol (ABX), an approved cough-suppressant, was identified as an enzyme-enhancement agent of the residual activity of glucocerebrosidase mutants derived from different misfolding-mutations in the GBA gene. Here, we describe the early beneficial effects of ABX on skeletal and hematological manifestations of a child suffering with progressive GD-I.
中文翻译：
氨溴索可改善戈谢病儿童的骨骼和血液学表现。
戈谢病（Gaucher disease，GD）是一种由葡萄糖脑苷脂酶缺乏引起的溶酶体贮积病，临床表现为肝脾肿大、骨浸润、血细胞减少，甚至中枢神经系统受累。骨表现是 GD-I 的典型表现，对主要治疗有部分反应。Ambroxol (ABX) 是一种获批的止咳药，被鉴定为源自 GBA 基因中不同错误折叠突变的葡萄糖脑苷脂酶突变体残留活性的酶增强剂。在这里，我们描述了 ABX 对患有进行性 GD-I 的儿童的骨骼和血液学表现的早期有益影响。
更新日期：2019-12-11
中文翻译：
氨溴索可改善戈谢病儿童的骨骼和血液学表现。
戈谢病（Gaucher disease，GD）是一种由葡萄糖脑苷脂酶缺乏引起的溶酶体贮积病，临床表现为肝脾肿大、骨浸润、血细胞减少，甚至中枢神经系统受累。骨表现是 GD-I 的典型表现，对主要治疗有部分反应。Ambroxol (ABX) 是一种获批的止咳药，被鉴定为源自 GBA 基因中不同错误折叠突变的葡萄糖脑苷脂酶突变体残留活性的酶增强剂。在这里，我们描述了 ABX 对患有进行性 GD-I 的儿童的骨骼和血液学表现的早期有益影响。
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