Gaucher S Disease

Gaucher's disease (Gaucher S Disease) is one of the most common genetic diseases that causes disturbances in lipid metabolism. This is an autosomal recessive inherited disease that manifests itself as the accumulation of glucocerebrosides - spherical molecules containing glucose and ceramide - inside the body's cells.

Gaucher disease is a rare disease that affects about 1 person in 100,000 people. It can occur in people of any age and race, but most often occurs in childhood.

Glucocerebrosides accumulate in various tissues of the body, but their most serious effects are caused by their deposits in the brain and bones. When glucocerebrosides are deposited in the brain, mental retardation, seizures and other neurological disorders occur. Deposits in the bones lead to disruption of their structure and increased fragility, which can lead to fractures and deformities of the limbs.

Symptoms of Gaucher disease can vary depending on the severity of the disease and the organs it affects. However, the most common symptoms are: enlarged liver and spleen, bone pain and deformities, growth retardation, spasticity of the limbs, poor coordination, anemia, low platelet count, digestive disorders, and difficulty swallowing.

Diagnosis of Gaucher disease is carried out by biochemical analysis of blood and tissues, as well as genetic analysis. If the diagnosis is confirmed, enzyme replacement therapy is carried out, which consists of administering the human enzyme glukerebrosidase, which destroys glucocerebrosides. This treatment method can slow the progression of the disease and reduce the severity of its manifestations.

If there is a risk of inheriting Gaucher disease, prenatal diagnosis by amniocentesis or chorionic biopsy is possible.

Thus, Gaucher disease is a serious genetic disease that can lead to severe impairment of a person’s physical and mental development. However, modern diagnostic and treatment methods make it possible to slow down the progression of the disease and reduce its manifestations.

Gaucher's disease is a genetic disorder that results from the deposition of glucocerebrovalosides primarily in the muscles and nervous system. As a result, an amorphous product accumulates, which leads to “incompressibility” and loss of tissue flexibility. The disease is accompanied by serious disorders of the brain, respiratory system and other organs. The disease is also known as cerebroanglioneurodystrophy.

The development of the disease is observed in the first years of a child’s life, with a sharp delay in the child’s development and often a pronounced disturbance in gait. An important point is the analysis of determining the type of disease gene. After all, the type of gene is key in choosing a drug that can alleviate the condition of a sick child. If a child has the first type of disease, then the drug miglustat is prescribed for its treatment. Several diagnostic methods are used to determine the possibility of choosing a drug. The most effective method is PCR analysis, which helps detect gene regions. If the laboratory provides the result immediately after the test, the accuracy of the diagnosis will be maximum. For those who take the drug for a long time, the disease may slow down or even stop completely. Most often, doctors prescribe taking two tablets of miglustat just once a day. This drug contains the enzyme glucocerebralosidase, which is not sufficient for brain function in patients with Gaucher disease. With long-term use of miglustatin, enzyme activity is restored and the disease stops developing. Long-term treatment may even completely cure HD patients.

Unfortunately, despite all the achievements of modern medicine, Gosche's disease is not incurable. The disease will progress, but taking a new highly effective drug (miglustatin) can avoid or slow down the development of severe symptoms that may appear in patients. In addition, intravital diagnostics can determine whether patients require additional treatment. Therefore, it is important not to postpone intravital diagnosis for the future, to properly tune in to treatment and even to wait for the result of treatment and become healthy. It is necessary to understand that Gaucher's disease is not a death sentence!