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Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
- 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.
- Subjects :
- Child
Enzyme Replacement Therapy
Gaucher Disease genetics
Gaucher Disease pathology
Glucosylceramidase genetics
Humans
Lysosomal Storage Diseases genetics
Lysosomal Storage Diseases physiopathology
Mutation genetics
Pedigree
Skeleton abnormalities
Splenomegaly drug therapy
Splenomegaly genetics
Ambroxol administration & dosage
Gaucher Disease drug therapy
Lysosomal Storage Diseases drug therapy
Skeleton drug effects
Subjects
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