Gaucher reaction is a disease of a genetic nature, which is based on a lack of an enzyme involved in metabolic processes at the cellular level. With the development of the disease, the formation of accumulations of pathological cells in tissues and organs occurs.
A Brief History
Gaucher reaction - what is it? The disease was first identified back in 1882, when the French physician Charles Philippe Gaucher described its manifestations in a patient with an enlarged spleen.
In 1924, doctors managed to synthesize a fatty substance containing pathological cells, thereby forming an idea of the main causative agent of the disease.
In 1965, experts from the American National Institutes of He alth proved that the formation of unhe althy cells occurs as a result of hereditary deficiency in the body of the enzyme glucocerebrosidase. The results of a successful diagnosis formed the basis for the development of a single method of therapy by the method of enzyme replacement. The application of a new approach to treatment did not completely eliminate the disease, but provided an opportunity to significantly reduce its manifestations.
Gaucher reaction: sociology. Whatis this?
Sociological studies show that for a population of 100,000 people, there are less than 1% of people with pathological heredity that causes the development of the disease. The indicated frequency is slightly increased among the Jewish population - immigrants from the Eastern European region. Therefore, it is generally accepted that the Gaucher reaction is a hereditary disease of the represented nationality. In fact, the pathological manifestation has the same frequency of distribution as the same hemophilia and other diseases in which cell lysosomes are affected.
Types
Specialists identify several types of the disease:
- Without neuropathy is the most common form of the disease, which in most people is asymptomatic. With a strong weakening of the body, it is manifested by the accelerated growth of pathological tissue. At the same time, unhe althy cells do not affect the nervous system and brain.
- With acute neuropathic manifestations - an extremely rare type of disease. It is characterized by the occurrence of pronounced neurological pathologies already in the first years of life. As statistics show, without adequate timely diagnosis and development of appropriate methods of therapy, death occurs before the age of two years.
- With chronic neuropathy - the disease is expressed by the slow progress of pathological manifestations, the presence of neurological symptoms of a moderate nature. In the later stages of development, the growth of unhe althy cellsleads to an increase in internal organs, damage to the respiratory system, the development of dementia. How serious is chronic Gaucher reaction? Sociology shows that most patients survive to adulthood.
Diagnosis
Identification of pathology requires a comprehensive examination of the body. In particular, making a correct diagnosis requires visiting a neurologist, a pediatrician, a specialist in the field of genetics. Currently, several effective methods are used, the results of which can indicate the development of the disease:
- A blood test is the most accurate diagnostic method that makes it possible to determine the amount of the enzyme glucocerebrosidase in microscopic leukocytes and fibroblasts.
- DNA analysis - allows you to identify genetic cellular mutations. Diagnosis by this method is possible with an accuracy of 90% even at the stage of fetal development in the womb.
- Bone marrow examination - aimed at identifying pathological changes in the tissue structure characteristic of the disease. The use of a diagnostic approach makes it possible to confirm the disease, but does not allow determining the location of cells that carry mutated genes.
Symptomatology and manifestations of the disease
As noted earlier, the early stages of the Gaucher reaction are asymptomatic. In this case, the lack of the enzyme glucocerebrosidase does not affect the functioning of internal organs and does not affect the nervous system.
When the disease is advanced, it has an acute, progressive character. At this stage, the patient feels a general malaise, periodically suffers from abdominal pain, since the growth of pathological cells primarily affects the spleen and liver. These organs increase in volume, and in the absence of proper diagnosis and therapy, they often undergo tissue ruptures.
This is how Gaucher's reaction manifests itself. In sociology, such a term does not exist, although the character of Will Smith from the movie "Focus" claimed the opposite.
The manifestation of symptoms of the disease in childhood often leads to the development of bone pathologies. The baby's bones develop slowly, there are delays in growth and skeletal formation.
Gaucher reaction: psychology
One of the main problems that people who are prone to a genetic disease face is a state of general malaise. This, in turn, causes a whole host of psychological problems. People who suffer from this disease in an acute form feel tired even after a good night's rest.
In children, the Gaucher reaction causes a lack of stamina and concentration. For this reason, they find it difficult to communicate with peers, play with friends, play sports, focus on school tasks, participate in social life.
Change in appearance can lead to a deterioration in the patient's mental state. The child may be teased due to insufficient growth, fullness, underdevelopment of muscle mass. People exposed to manifestationsailment in an acute form, often suffer from a discrepancy between external data and the desired self-image. Psychological consultation can help eliminate the above problems.
Possible consequences
If untreated, the consequences of the disease are usually:
- abundant hemorrhages in the digestive organs;
- damage to liver and spleen tissue;
- spasms of the larynx, up to complete cessation of breathing;
- development of respiratory failure, frequent pneumonia;
- destructive processes in bone tissue, fractures;
- infection of the bone marrow.
Treatment
Not so long ago, therapy meant only the elimination of the main symptoms of the disease. Since the 90s of the last century, enzyme replacement therapy has been used as the main method of treatment, which involves the introduction of a modified element of glucocerebrosidase into the body. An artificial enzyme copies the functions of a natural component in the structure of the blood and makes up for its deficiency in the body. Injections containing a substance can eliminate the negative symptoms of the disease, and in some cases stop the formation of pathological cells in general.
To alleviate the general condition, sick people are prescribed analgesics. With the progression of the disease, they resort to removing part of the liver or spleen. In some cases, a bone marrow transplant can solve the problem.
In closing
Gaucher reaction - what is itlike this? As can be seen, pathology is a disorder with rather vague symptoms. The success of treatment here is directly reflected in the detection of pathology in the early stages, the early start of replacement therapy. Delayed response to the problem leads to the development of serious complications, and the result of the lack of proper treatment is most often fatal.
