Syndrome Di Georgi: causes, treatment

Diseases of the immune system began to be studied relatively recently, since this science is one of the youngest in medicine. Nevertheless, due to the rapid development, today there are 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 Di Georgi syndrome, in which congenital insufficiency of T-lymphocytes is observed. In addition to the insufficiency of protective mechanisms, this disease manifests itself in multiple anomalies in the development of organs and systems that are noticeable already during the period of newborns, and in some cases during intrauterine development.

Mechanism of disease development

The syndrome di Georgi is characterized by a complete or partial underdevelopment of the thymus gland (thymus). This organ is located in the thoracic cavity of 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 refer to pathology. With the syndrome of Di Georgi it is a question of the inborn absence of this organ or its inadequate development (hypoplasia). As a result, immunity cells remain inadequate and do not perform their functions. In addition, with this disease is often observed the absence of parathyroid glands responsible for the exchange of calcium and phosphorus in the body. The mechanism of development of anomalies of various systems is associated with violations of intrauterine development of the fetus that occur in the early stages of pregnancy.

Syndrome Di Georgi: causes of pathology

At the moment there is no precise explanation of why there is aplasia of the thymus gland. In most cases, with this pathology, there is a genetic defect in the 22nd chromosome, which consists in the loss of one of its parts. It is believed that such a violation is associated with heredity, however, this theory is not proven. In addition, the defect in the 22nd chromosome is not observed in all patients, but only in 80% of cases. The causes of Di Georgi syndrome are also associated with fetal embryonic abnormalities arising from pathologies present in the mother. Infectious diseases (rubella, measles, herpes), diabetes mellitus, brain injuries, etc., which have been transferred during pregnancy, can be attributed to them. Other causes of the Di Georgi syndrome are substance abuse (alcohol, drugs) and exposure to chemicals during the intrauterine period Development.

Clinical manifestations of thymus aplasia

The disease becomes noticeable already in the first days of the baby's life, because in addition to the deficiency of the immune system, it manifests itself in multiple malformations. The most serious are the pathologies of the heart, since some of them are incompatible with life (tetralogy of Fallot). Developmental abnormalities can affect any organs and systems, but most often Di Georgi's syndrome is manifested by the following symptoms:

1. Disorders of the face: a reduction in the bones of the skull and jaw, wide-set eyes, underdevelopment of the auricles, "gothic" palate, "hare lip", etc.
2. Anomalies of the respiratory tract and esophagus.
3. Defects of the development of the nervous system - atrophy of the cerebral cortex or cerebellum. As a result of these disorders, gait, paresis and paralysis, changes in sensitivity are observed. The main manifestation of CNS abnormalities is mental retardation, which becomes noticeable in the first years of a child's life.
4. Malformations of the digestive tract: stenosis and atresia.
5. Pathological fractures of bones, an increase in the number of fingers or toes.
6. Anomalies of the visual organ: strabismus, vascular disorders of the retina.
7. Malformations of the urinary system.

Disorders can occur singly or combine with each other. In some cases, developmental abnormalities are absent, and Di Georgi's syndrome consists only in the deficiency of immune mechanisms. Deficiency of T-lymphocytes is manifested by the propensity to viral and bacterial infections, tumoral processes. In this case, the diseases that result from immunodeficiency, are not suited to antibacterial and anti-inflammatory therapy. Aplasia of parathyroid glands is manifested by convulsive conditions.

Diagnostic criteria of the disease

The diagnosis is made when the following symptoms are combined: high susceptibility to infectious diseases, developmental abnormalities and convulsions. In laboratory tests, you can see a decrease in the number of lymphocytes and a decrease in the level of calcium. In order to confirm the diagnosis, it is necessary to conduct studies of the immune status. The following changes are observed: no response to vaccination and negative tests for hypersensitivity and lymphoblastic transformation. The number of B-lymphocytes has not been changed. When studying the structures of cellular immunity, their decrease, decrease in activity is noted. The ultrasound of the thoracic cavity reveals the absence or decrease of the thymus and parathyroid glands. Investigation of the structure of DNA allows you to learn about the changes in the 22nd chromosome.

Syndrome Di Georgi: treatment of pathology

Treatment of pathology depends on the degree of disturbance. With the complete absence of the thymus, organ transplantation is indicated . Surgical treatment is necessary for severe malformations of organs and systems. In uncomplicated course of the disease and the absence of serious anomalies, supportive therapy is prescribed. The main drugs are immunostimulants. Throughout life, it is necessary to replace calcium deficiency in the body. In infectious diseases, symptomatic therapy is used: antibiotics, antiviral medicines. In addition to taking medicines, it is necessary to avoid hypothermia, stressful situations and other unfavorable factors.

Consequences of thymus aplasia

The syndrome of Di Georgi 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 body of patients perceives their cells for foreign agents and begins to fight against them. As a result, there are such diseases as systemic lupus erythematosus, dermatomyositis, rheumatoid arthritis. In severe anomalies of development, the following complications can be observed: mental retardation, paralysis of limbs, blindness. With convulsive syndrome, it is possible to develop respiratory failure due to asphyxia.

Prognosis for the syndrome of Di Georgi

When a combination of immune deficiency and visible defects in the development of the facial skull is diagnosed: Di Georgi's syndrome. Photos of people suffering from this disease can be seen in 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. Typically, children with Di Georgi syndrome do not live to the age of 10 due to severe infectious or oncological diseases. In the case of a lighter course, absence of malformations and adequate replacement therapy, the prognosis may be favorable.

Prevention of the syndrome Di Georgi

Specific prevention of this disease does not exist. In order to prevent violations of fetal embryonic development, a future mother should limit stress factors, abandon bad habits, and prevent infection with bacterial and viral diseases. Anomalies of development can be detected on a planned ultrasound, which is performed in each trimester of pregnancy.