Acanthosis Nigricans |
Gauchers DiseaseGaucher's disease is the most common of the lipid storage diseases. Gaucher's disease is caused by a deficiency of an enzyme called glucocerebrosidase, which breaks down glucocerebroside. Fatty material can collect in the spleen , liver, kidneys , lungs , brain and bone marrow. The first category, called type 1 , is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 6 months of birth. Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders spasticity seizures limb rigidity and a poor ability to suck and swallow. Affected children usually die by age 2. Type 3 (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood. Major symptoms include an enlarged spleen and/or liver seizures poor coordination skeletal irregularities eye movement disorders blood disorders including anemia and respiratory problems. Patients often live into their early teen years and adulthood. Gaucher disease is an inherited illness caused by a gene mutation. Gaucher disease is most common in Ashkenazi Jews (those of European origin), however, variants have been described in all ethnic groups. In people with Gaucher disease, the body is not able to properly produce this enzyme, and the fat can not be broken down. Gaucher disease can result in pain, fatigue, jaundice, bone damage, anemia, and even death. Affected patients frequently have no symptoms, however, variants where symptoms appear in childhood are inevitably fatal. Gaucher's disease is an autosomal recessive disorder. This means that both parents must carry the gene defect in order to pass the disease to their children. If both parents have the gene defect, each child has a 50 percent chance of developing the disease, a 25 percent chance of not being affected at all, and a 25 percent chance of being a carrier of the gene. Gaucher-like disease chiefly affects the heart, but may also cause bone disease and mild enlargement of the spleen. In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life. Causes of Gauchers DiseaseThe common Causes of Gauchers Disease :
Symptoms of Gauchers DiseaseSome Symptoms of Gauchers Disease :
Treatment of Gauchers Disease
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