Diseases of the immune system began to be studied relatively recently, since this science is one of the youngest in medicine. Nevertheless, thanks to rapid development, today there are already many discoveries in this industry. Diseases of the body's defense system are called immunodeficiency states, which are divided into primary and secondary lesions. An example of such pathologies is Dee Georges syndrome, in which congenital T-lymphocyte deficiency is observed. In addition to the lack of protective mechanisms, this disease is manifested by multiple anomalies in the development of organs and systems, noticeable already in the neonatal period, and in some cases during intrauterine development.
The mechanism of the development of the disease
Di Georgi's syndrome is characterized by complete or partial underdevelopment of the thymus gland (thymus). This organ is located in the chest cavity in children and is necessary for the formation of a cellular immune response. During puberty, the thymus begins to decrease in size and transform into adipose tissue. This process is normal and does not apply to pathology. With Di Georgi's syndrome, we are talking about the congenital absence of this organ or its insufficient development (hypoplasia). As a result, immunity cells remain inferior and do not fulfill their functions. In addition, with this disease, there is often a lack of parathyroid glands responsible for the exchange of calcium and phosphorus in the body. The mechanism for the development of abnormalities of various systems is associated with fetal developmental disorders occurring in early pregnancy.
Di Georgie's Syndrome: Causes of Pathology
At the moment, there is no exact explanation of why thymus aplasia occurs. In most cases, with this pathology, a genetic defect occurs on the 22nd chromosome, which consists in the loss of one of its sites. It is believed that such a violation is related to heredity, however, this theory is not proven. In addition, a defect in the 22nd chromosome is not observed in all patients, but only in 80% of cases. The causes of Di Georgy syndrome are also associated with fetal fetal disorders resulting from pathologies present in the mother. These include infectious diseases (rubella, measles, herpes) suffered during pregnancy, diabetes mellitus, brain injuries, etc. Other causes of DiGeorge's syndrome are substance abuse (alcohol, drugs) and exposure to chemicals during the prenatal period development.
Clinical manifestations of thymus aplasia
The disease becomes noticeable already in the first days of the baby's life, since in addition to the insufficiency of the immune system, it manifests itself in multiple malformations. The most severe are pathologies of the heart, since some of them are incompatible with life (tetralogy of Fallot). Abnormalities of development can affect any organs and systems, but most often Di Georgi syndrome is manifested by the following symptoms:
- Facial disorders: reduction of the bones of the skull and jaw, wide-set eyes, underdevelopment of the auricles, “Gothic” palate, “cleft lip”, etc.
- Anomalies of the respiratory tract and esophagus.
- Malformations of the nervous system - atrophy of the cerebral cortex or cerebellum. As a result of these violations, impaired gait, paresis and paralysis, changes in sensitivity are observed. The main manifestation of CNS abnormalities is considered to be mental retardation, which becomes noticeable in the first years of a child's life.
- Digestive tract malformations: stenosis and atresia.
- Pathological bone fractures, an increase in the number of fingers on the hands or feet.
- Anomalies of the visual organ: strabismus, disorders of the retinal vessels.
- Malformations of the urinary system.
Disorders can occur singly or combine with each other. In some cases, developmental abnormalities are absent, and DiGeorge's syndrome consists only in the lack of immune mechanisms. Deficiency of T-lymphocytes is manifested by a tendency to viral and bacterial infections, tumor processes. In this case, diseases resulting from immunodeficiency are poorly amenable to antibacterial and anti-inflammatory therapy. Aplasia of the parathyroid glands is manifested by convulsive conditions.
Diagnostic criteria for the disease
The diagnosis is made with a combination of the following symptoms: high susceptibility to infectious diseases, developmental abnormalities and convulsions. In laboratory tests, you can notice a decrease in the number of lymphocytes and a decrease in calcium levels. In order to confirm the diagnosis, it is necessary to conduct studies of the immune status. The following changes are observed: the lack of response to vaccination and negative tests for hypersensitivity and lymphoblastic transformation. The number of b-lymphocytes is not changed. When studying the structures of cellular immunity, their decrease, decrease in activity is noted. Ultrasound of the chest cavity reveals the absence or decrease of the thymus and parathyroid glands. A study of the structure of DNA allows you to learn about changes in the 22nd chromosome.
Di Georgie's syndrome: treatment of pathology
Treatment of pathology depends on the degree of disturbance. In the complete absence of the thymus, organ transplantation is indicated . Surgical treatment is necessary for severe malformations of organs and systems. In the uncomplicated course of the disease and the absence of serious abnormalities, maintenance therapy is prescribed. The main drugs are immunostimulants. Throughout life, it is necessary to compensate for the lack of calcium in the body. In infectious diseases, symptomatic therapy is used: antibiotics, antiviral medications. In addition to taking medications, it is necessary to avoid hypothermia, stressful situations and other adverse factors.
The consequences of aplasia of the thymus
Di Georgie's syndrome is dangerous because it entails many complications. Patients with this pathology are susceptible to tumor processes, severe infectious processes. A frequent consequence of the syndrome is the development of autoimmune disorders. This is due to the fact that the patient’s body perceives its own cells as foreign agents and begins to fight against them. As a result of this, diseases such as systemic lupus erythematosus, dermatomyositis, rheumatoid arthritis occur. In severe developmental abnormalities, the following complications can be observed: mental retardation, paralysis of the limbs, blindness. In convulsive syndrome , respiratory failure due to asphyxia is possible.
Prognosis for Dee Georgie Syndrome
With a combination of immune deficiency and visible malformations of the facial skull, a diagnosis is made: Di Georgi syndrome. Photos of people suffering from this disease can be seen in the special medical literature. With this combination of these symptoms, the prognosis for life is usually unfavorable, since developmental abnormalities indicate a severe form of pathology. Usually, children with Dee Georgie syndrome do not live to be 10 years old due to severe infections or oncological diseases. In the case of a milder course, the absence of malformations and adequate replacement therapy, the prognosis may be favorable.
Prevention of Di George syndrome
There is no specific prophylaxis for this disease. In order to prevent violations of the embryonic development of the fetus, the expectant mother needs to limit stress factors, abandon bad habits, and also prevent infection with bacterial and viral diseases. Anomalies of development can be detected on a planned ultrasound, which is carried out in each trimester of pregnancy.