Gaucher disease: current issues in diagnosis and treatment
Article Abstract:
Research is needed on the most effective dose of enzyme replacement therapy for Gaucher disease. Gaucher disease is a rare disease caused by a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of a fat called glucocerebroside in cells. This results in anemia, an enlarged liver and spleen and changes in bone. There are three types of Gaucher disease and 50 gene mutations have been identified. The disease has an extremely variable presentation. Even people with the same mutation can have widely different symptoms. Enzyme replacement therapy with alglucerase can alleviate symptoms in people with type 1 disease. But the treatment is very expensive and there are no data on whether it will help those who have no symptoms. Because the disease can vary so dramatically, genetic testing and counseling would be extremely difficult. Research efforts could be improved by registering all Gaucher patients and developing a clinical severity score.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1996
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Carrier screening for Gaucher disease: more harm than good?
Article Abstract:
The cost-benefit analyses for screening of Gaucher disease and their use to mankind is discussed. The success of screening program vastly depends on whether clinicians and researchers understand the factors that determine whether a patient homozygous for the N370S mutation would develop severe disease or not.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2007
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Gaucher disease
Article Abstract:
The risk factors, signs and symptoms and treatment for gaucher disease, caused by a deficiency of a specific enzyme called glucocerebrosidase are described.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2007
User Contributions:
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