Gaucher disease with pulmonary involvement in a 6-year-old girl: Report of resolution of radiographic abnormalities on increasing dose of imiglucerase

Gaucher disease with pulmonary involvement in a 6-year-old girl: Report of resolution of radiographic abnormalities on increasing dose of imiglucerase

We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 wee...

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Bibliographic Details
Published in:The Journal of pediatrics Vol. 139; no. 6; pp. 862 - 864
Main Authors: Lee, Shing Yan Robert, Mak, Alex Wan Cheong, Huen, Kwai Fun, Lam, Steven Tak Sum, Chow, Chun Bong
Format: Journal Article
Language:English
Published: New York, NY Mosby, Inc 01-12-2001
Elsevier
Subjects:
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child
Dose-Response Relationship, Drug
Errors of metabolism
Female
Gaucher Disease - complications
Gaucher Disease - diagnostic imaging
Gaucher Disease - drug therapy
Glucosylceramidase - administration & dosage
Glucosylceramidase - therapeutic use
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Lung Diseases - diagnostic imaging
Lung Diseases - drug therapy
Lung Diseases - etiology
Medical sciences
Metabolic diseases
Radiography
Treatment Failure
Human
Nervous system diseases
Report
Enzyme
Lung
Metabolic diseases
Lipids
Enzymopathy
Cerebral disorder
Genetic disease
Increasing dose
Imiglucerase
Gaucher disease
Central nervous system disease
Lipoidosis
Child
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Description
Summary:We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved when the dose was increased to 100 U/kg/2 weeks. This case illustrates the importance of trial of escalating dosage in the face of failure of response at lower doses. (J Pediatr 2001;139:862–4)
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:0022-3476
1097-6833
DOI:10.1067/mpd.2001.119445