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Gaucher disease

A rather rare hereditary disease characterized by the fact that a patient accumulates fats of a certain type in the cells of bones and internal organs – glucocerebrosides. Gaucher disease is a rare disease, it occurs in one of 40-100 thousand. But in closed ethnic communities in which kinship is common, cases of the disease can be an order of magnitude more.
Gaucher disease

The “culprit” of this pathology is a mutated gene responsible for the activity of the enzyme that breaks down fats (lipids) of glucocerebrosides. As a result, these unprocessed lipids accumulate in the cells of various organs. Hence the second name of the disease – glucocerebroside lipidosis.

Most often, cells of the spleen, liver, bone marrow, as well as kidneys and lungs are affected. These cells (Gaucher cells) significantly increase, the affected organ is deformed and its work is disrupted.

The child receives defective genes from both parents, that is, the disease will develop if both the mother and father are carriers.

Manifestations of Gaucher Disease
According to the severity and time of onset of the developmental disease, three forms are distinguished.

1. Most often, the so-called first type of Gaucher disease occurs. The first signs of the disease appear in adults, usually after 30 years. Pathological changes affect the liver and spleen, which causes disturbances in their work. Nerves are not affected, and the brain and spinal cord are functioning normally.

This form of the disease can go away without visible symptoms, but serious complications are sometimes possible. The manifestations of pathology include small growth, an enlarged spleen. Bone pain, subcutaneous hemorrhage, anemia are possible.

2. In the second type of Gaucher disease, nerve cells are affected. This leads to various neurological disorders that develop very quickly. The first symptoms of this type of disease appear almost immediately after the birth of the baby. This is a decreased muscle tone, cramps, respiratory failure and swallowing. Usually such children live no more than two years. Fortunately, this type of Gaucher disease is extremely rare.

3. Gaucher disease of the third type is manifested in children, but older. Pathological changes affect the nervous system. The disease develops slowly. Muscle rigidity, cramps occur, coordination of movements is disturbed. The child stops in mental development, dementia occurs.

How is the disease diagnosed?
blood test for glucocerebrosidase level;
biochemical blood test;
skin cell research;
biopsy and histological examination of tissue samples taken from affected organs;
examination of bone tissue (densitometry, MRI, radiography);
DNA analysis for genetic mutations; this study can determine the pathology of the fetus during pregnancy of the mother.
Treatment and prevention
It is impossible to cure this hereditary pathology, therefore the goal of treatment is to reduce the manifestation of symptoms and improve the quality of life of the patient. To do this, use:

analgesics to reduce pain;
splenectomy;
treatment by an orthopedist – with brittle bones:
enzyme replacement therapy – regular administration of glucocerebrosidase into the body, lifelong treatment;
bone marrow transplant;
dispensary observation.
To prevent this disease, couples planning to give birth to a baby should preferably undergo genetic counseling and study the chromosome set, even if the parents are healthy. It is especially important to conduct this study if a woman with previous pregnancies had miscarriages.

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