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Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

Journal of Human Genetics volume 65, pages 345–349 (2020)Cite this article

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Abstract

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.

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Acknowledgements

The authors thank the patient and her guardians to be included in this study.

Funding

This project is supported by Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant Support (20152520), Shanghai Science and Technology Committee (16JC1404600), NSFC (81570516), and National Key Research and Development Program (2016YFC0905100, 2016YFC0901505).

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Authors and Affiliations

  1. Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, 200092, Shanghai, China

    Wenjun Jiang, Mengni Yi & Huiwen Zhang

  2. Departments of Pediatrics, Genetics and Metabolism, Neuroscience, Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, 32610, USA

    Gustavo H. B. Maegawa

Authors
  1. Wenjun Jiang
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  2. Mengni Yi
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  3. Gustavo H. B. Maegawa
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  4. Huiwen Zhang
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Contributions

Study design: WJ, MY, and HZ: data collection and data analysis; HZ and GM: data interpretation, drafting manuscript, approving final version of manuscript; HZ takes responsibility for the integrity of the data analysis.

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Correspondence to Huiwen Zhang.

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Jiang, W., Yi, M., Maegawa, G.H.B. et al. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. J Hum Genet 65, 345–349 (2020). https://doi.org/10.1038/s10038-019-0704-3

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  • DOI: https://doi.org/10.1038/s10038-019-0704-3

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