A rare hereditary disease, characterized by the fact that the patient in the cells of bones and internal organs accumulate fats of a certain type – glucocerebrosides. Gaucher disease is a rare disease, it occurs in one of 40–100 thousand. But in closed ethnic communities in which kinship marriages are common, there may be an order of magnitude more cases.
Causes and mechanism of development
The “culprit” of this pathology is a mutated gene responsible for the activity of the enzyme that breaks down the fats (lipids) glucocerebrosides. As a result, these unprocessed lipids accumulate in the cells of various organs. Hence the second name of the disease – glucocerebroside lipidosis.
The cells of the spleen, liver, bone marrow, as well as the kidneys and lungs are most often affected. These cells (Gaucher cells) are greatly enlarged, the affected organ is deformed and its work is disturbed.
The child receives defective genes from both parents, that is, the disease will develop if both the mother and the father are both carriers.
Manifestations of Gaucher disease
According to the severity and time of onset of developmental disease, there are three forms.
1. The most common is the so-called first type of Gaucher disease. The first signs of the disease occur in adults, usually after 30 years. Pathological changes affect the liver and spleen, which causes disruption 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 sometimes serious complications are possible. The manifestations of pathology include small growth, enlarged spleen. Possible bone pain, subcutaneous hemorrhage, anemia.
2. In the second type of Gaucher disease, nerve cells are affected. This leads to the emergence of various neurological disorders that develop very quickly. The first symptoms of this type of disease appear almost immediately after the birth of the child. This is a reduced 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. There are stiffness of muscles, spasms, coordination of movements is broken. The child stops in mental development, there is dementia.
How is the disease diagnosed
a blood test for glucocerebrosidase;
biochemical analysis of blood;
skin cell research;
biopsy and histological examination of tissue samples taken from the affected organs;
examination of bone tissue (densitometry, MRI, X-ray);
DNA analysis for the presence of 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;
treatment by an orthopedist – with the fragility of the bones:
replacement enzyme therapy – the regular introduction of glucocerebrosidase into the body, life-long treatment;
bone marrow transplant;
For the prevention of this disease, couples who plan to have a baby, it is advisable to undergo genetic counseling and examine the chromosome set, even if the parents are healthy. It is especially important to conduct this study if a woman has had a miscarriage in previous pregnancies.
When a child already suffering from this disease grows in a family, then the next pregnancy requires prenatal diagnosis.