Gaucher Disease Type I and III Responded Well to Substrate Reduction Therapy Using Eliglustat

Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into type...

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Bibliographic Details
Published inInternal Medicine p. 1425-22
Main Authors Harai, Nozomi, Ichijo, Masashi, Uchinuma, Hiroyuki, Hanihara, Mitsuto, Kawaguchi, Yoshihiko, Ichikawa, Daisuke, Tsuchiya, Kyoichiro
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society of Internal Medicine 08.03.2023
Subjects
enzyme replacement therapy
Gaucher disease
glucocerebrosidase
glucocerebroside
glucosyl sphingosine
substrate reduction therapy
substrate reduction therapy
Gaucher disease
enzyme replacement therapy
glucosyl sphingosine
glucocerebroside
glucocerebrosidase
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Summary:Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into type I (without CNS disorders), II, and III. Substrate reduction therapy (SRT) is an oral therapy that improves patients' quality of life; however, its effect on type III GD is unknown. We administered SRT to GD type I and III patients and found it effective. Malignancy is a late complication of GD, but this is the first report of Barrett adenocarcinoma.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.1425-22