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Gaucher disease is an inherited disease, in which lipid metabolism is disturbed. A French medical student Philippe Charles Ernest Gaucher described the disease in 1882. He found typical cells that accumulated unsplit fats in a patient with an enlarged spleen. Later, these cells were called Gaucher cells, and the disease itself was also called after the doctor who described it. It is the most common one among the lysosomal storage diseases - severe hereditary diseases associated with the absence or lack of lysosomal enzymes.
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Depending upon the symptoms and age at which they occur, there are three clinical types of Gaucher disease. The first type is called chronic or adult. It manifests in people almost immediately after birth through the increase of the spleen. The other symptoms are anemia, exceeding bleeding and pain in the bones. Suffering from this type of Gaucher disease, people live long enough. In adulthood, the skin on the face and legs of the patients is hyperpigmented and of yellow-brown color. Quite often, the skin, especially around the eyes, has red spots. According to Gillham (2011), “type 1 accounts for 80% to 90% of all cases” (p. 215). The second type may develop immediately after the birth and up to 18 months. However, most often, the first symptoms arise in the first three months. They may include the enlargement of the spleen and liver. Children also may have difficulties with swallowing. Besides, strabismus may develop. By nine months, spastic paralysis develops. Convulsions are possible. Children with Gaucher disease often have pneumonia. The life expectancy in such cases is from one month to two years. Futerman and Zimran (2006) prove that “this type is known as the infantile or acute neuronopathic form” (p. 2). The third type is also called juvenile or subacute neuropathic. It manifests in enlargement of the spleen in the second year of life. The liver also increases. In addition, the disease does not manifest itself until seven years. Then, a squint, spastic paralysis, and convulsions develop. Death usually occurs within two years after the onset of these symptoms.
To diagnose the disease, it is necessary to have the examination of a pediatrician, neurologist, ophthalmologist and genetics consultation. Rosenberg (2008) states that “the diagnosis of Gaucher disease is usually confirmed by assaying glucocerebrosidase activity in homogenates of leukocytes or cultured skin fibroblasts” (p. 209). It is also necessary to make complete blood count, biochemical blood analysis, biochemical blood to evaluate lipid metabolism, and general analysis of urine. Doctors make a blood test to identify the enzyme, as well as the DNA testing for the presence of the mutated gene.
The treatment of Gaucher disease is aimed at reducing its manifestations. Since 1991, there is a method of treatment of this disease that uses a modified form of the glucocerebrosidase enzyme. The infusional introduction of this drug helps fight the disease. However, this method is suitable only for the first type of Gaucher disease. When patients suffer from pain in the bones, doctors prescribe analgesics. In some cases, an orthopedic consultation is necessary. If necessary, the spleen or a part of it is removed. Transplantation of the bone marrow is performed can also be performed.
The only method of prevention of Gaucher’s disease is a medical and genetic counseling. In the case when a family already has one child suffering from this disease, it can be determined whether there is a shortage of glucocerebrosidase in the cells of the amniotic fluid. If a fetus has it, doctors recommend the termination of pregnancy (Rosenberg, 2008).
Gaucher disease is a congenital genetic disorder. It is characterized by a number of different symptoms. There are three clinical types, which differ depending on the age at which the disease begins and the prevalence of particular symptoms.
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