| 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 |
| Symptoms: |
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| Signs and tests: |
Evaluation:
Genetic Testing: Genetic testing is performed by obtaining bone marrow or blood. Tests are designed to assess enzyme functional activity and/or obtain and sequence DNA to look for certain mutations. Genetic testing is an extremely complicated personal decision that should be considered for a variety of reasons, including to advise siblings or other relatives in families of diagnosed patients, or to confirm a diagnosis in a patient with symptoms. Testing can also determine if parents carry the gene that could cause Gaucher's disease. Because Gaucher's disease is a recessive disease, offspring of parents who are both carriers have a 25% chance of inheriting two abnormal copies of the gene. Testing is complicated by the fact that the disease expression is extremely variable, and patients that test positive may not show signs and symptoms of the disease. Therefore, routine testing is not recommended and may be disadvantageous, as this information may have to be revealed to insurance companies. A prenatal test can also tell if the fetus has Gaucher syndrome. In every circumstance, genetic counseling should be available to anyone considering genetic testing for this disease. |
Bone marrow aspiration |
Gaucher cell, photomicrograph |
Gaucher cell, photomicrograph #2 |
Hepatosplenomegaly |
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