Monday, July 28, 2014

the pathophysiology of Gaucher disease

READ Patients with rare diseases receive their sight
Subsituter the missing enzyme

TREATMENT. Evolution of the disease can lead to irreversible complications. Fortunately, treatment is available.

It consists of administering an infusion of the missing enzyme, every two weeks, to allow the metabolism of the affected person to function almost normally again and stop the accumulation of waste. There is talk of enzyme replacement therapy. Overall, it is well tolerated and has few side effects, according to VML association.

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DISCOVERY. Gaucher disease was discovered by Dr. Philippe Gaucher. This doctor has identified the disease for the first time in 1882 in a patient 32 years with splenomegaly (enlarged spleen). At that time, he thought he recognized a form of splenic tumor and had published his discovery in his doctoral thesis. It was not until 1965 that the pathophysiology of Gaucher disease has been elucidated.

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