| ENCYCLOPEDIA INDEX |
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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z |
Gaucher disease |
| Overview Symptoms Treatment Prevention |
| Alternative Names: |
| Glucosylceramide storage disease; GSDI |
| Treatment: |
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In the past, the only treatment was removal of the spleen (splenectomy). Now, injections of a replacement synthetic enzyme (Cerezyme/Ceredase) are available. Gene therapy is an experimental approach. A new oral treatment has recently been evaluated and is still under investigation. The drug, known as N-butyldeoxynojirimycin (OGT 918), works by inhibiting the formation of glucocerebroside. In clinical trials, patients had improved liver and spleen size and, to a lesser degree, improved blood counts. The most frequent side effect was diarrhea. |
| Expectations (prognosis): |
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The infantile form of Gaucher disease may lead to early death. Most affected children die before the age of 5 years. With the availability of synthetic enzyme, most patients with the adult-chronic form can look forward to normal or near-normal life expectancy. |
| Complications: |
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| Calling your health care provider: |
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Call your health care provider or a Comprehensive Gaucher Center if you have a family history of Gaucher disease. Screening may be reasonable for individuals of appropriate ethnic groups known to be at a higher risk of the disease. |
Bone marrow aspiration |
Gaucher cell, photomicrograph |
Gaucher cell, photomicrograph #2 |
Hepatosplenomegaly |
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