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

Authors :
Jiang W
Yi M
Maegawa GHB
Zhang H
Source :
Journal of human genetics [J Hum Genet] 2020 Mar; Vol. 65 (3), pp. 345-349. Date of Electronic Publication: 2019 Dec 11.
Publication Year :
2020

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.

Details

Language :
English
ISSN :
1435-232X
Volume :
65
Issue :
3
Database :
MEDLINE
Journal :
Journal of human genetics
Publication Type :
Academic Journal
Accession number :
31822786
Full Text :
https://doi.org/10.1038/s10038-019-0704-3