Di George Syndrome

Di George Syndrome is a rare hereditary disease that causes immunodeficiency and is accompanied by congenital absence of the thymus and parathyroid glands, heart defects and low calcium levels in the blood. It got its name in honor of the American pediatrician and geneticist Angelo George, who first described this disease in 1968.

DiGeorge syndrome is the result of genetic changes that occur during embryonic development. It is caused by the deletion (deletion) of a small piece of genetic information on the 22nd pair of chromosomes, known as a “22q11.2 deletion.” This results in the body's inability to fight infection, since the thymus and parathyroid glands play an important role in the development and functioning of the immune system.

Sick children are prone to infections caused by Candida fungi, as well as other diseases such as pneumonia, sepsis and meningitis. They may also have problems with digestion and breathing, and may suffer from heart defects such as aortic stenosis and ventricular septal defect.

One of the most characteristic features of DiGeorge syndrome is the absence or insufficient development of the thymus gland, which plays an important role in the development and functioning of the immune system. This leads to a decrease in the level of T lymphocytes in the blood, which makes patients more vulnerable to infectious diseases.

Another characteristic sign is a decrease in calcium levels in the blood. This can lead to cramps, muscle weakness, and a slow heart rate. Some patients may also experience developmental delays, especially in the areas of speech and psychomotor development.

DiGeorge syndrome has no cure, but symptoms can be improved with medication and surgery. Treatment is aimed at improving the function of the immune system, normalizing calcium levels in the blood and treating heart defects. Regular consultations with a pediatrician and other specialists will help monitor the child’s health and improve his prognosis.

In conclusion, DiGeorge syndrome is a rare hereditary disease that causes immunodeficiency and is accompanied by congenital absence of the thymus and parathyroid glands, heart defects and low calcium levels in the blood. This leads to increased vulnerability to infectious diseases and other health problems. Although there is no cure, symptoms can be improved with drug therapy and surgery. Regular consultations with a pediatrician and other specialists will help monitor the child’s health and improve his prognosis. If you notice signs of DiGeorge syndrome in your child, contact your doctor for further diagnosis and treatment.

Di George Syndrome: Features, diagnosis and treatment

DiGeorge syndrome, also known as 22q11.2 deletion or congenital thymic-parathyroid defect, is a rare genetic disorder that affects various systems of the body. This is an inherited disease caused by the deletion of a small piece of genetic information on chromosome 22. DiGeorge syndrome occurs in approximately 1 in 4,000 to 6,000 births, although the exact incidence may vary among populations.

The main manifestations of DiGeorge syndrome are the congenital absence or underdevelopment of the thymus (a lymphoid gland that plays an important role in the development and functioning of the immune system) and the parathyroid gland. These anomalies are directly related to immunodeficiency, which is characterized by a reduced ability of the body to resist infectious diseases. Patients with DiGeorge syndrome are at increased risk of infections, especially those caused by Candida fungi.

In addition to problems with the immune system, DiGeorge syndrome is also accompanied by heart defects, which can vary in severity. Some children may have simple heart defects, such as holes between the ventricles or atria, while others may have more complex abnormalities that require surgery.

Another characteristic feature of DiGeorge syndrome is low calcium levels in the blood. This can lead to a variety of symptoms, including seizures, muscle hypotonia, and developmental delays in children. Low calcium levels can also affect your teeth and skeletal system.

The diagnosis of DiGeorge syndrome is usually made based on clinical signs, such as heart defects, absent or underdeveloped thymus and parathyroid glands, and the results of genetic studies. Examination of the 22q11.2 deletion using fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR) is an important step in making a diagnosis.

Treatment for DiGeorge syndrome is aimed at relieving symptoms and managing complications. In cases of immunodeficiency, prophylactic antibiotics and antifungals may be used to prevent infections. In some cases, thymus transplantation or immunotherapy may be required to improve immune system function. Heart defects may require surgery. Correcting blood calcium levels can be done through diet, taking calcium supplements, or taking special medications.

However, it is important to note that treatment for DiGeorge syndrome is individualized and should be based on each patient's specific needs. Regular medical monitoring, including consultations with immunologists, cardiologists and other specialists, plays an important role in the management of this syndrome.

DiGeorge syndrome can have a significant impact on the life of the patient and their family. Support, education, and resources for families coping with this syndrome can be valuable in helping them cope with the challenges of caring for and managing their child's health.

In conclusion, DiGeorge syndrome is a rare genetic disorder that affects the immune system, cardiovascular system, and calcium metabolism in the body. Early diagnosis, timely treatment, and management of complications are key aspects of caring for patients with this syndrome. A collaborative effort between the medical community, families and patients will help improve the quality of life and ensure the most optimal outcomes for everyone affected by DiGeorge syndrome.

Di Georga syndrome, also known as Di George Syndrome, is an inherited immunodeficiency disorder caused by the absence of the thymus gland, parathyroid glands, and congenital heart defects. The syndrome is characterized by the inability of the immune system to fight infections, which leads to a high risk of developing infectious diseases.

Duguay Citonre Hercat syndrome (Di Georg syndrome) is a hereditary immunodeficiency disease that leads to immune disorders and is a form of Wiskott-Aldrich syndrome. This is a disorder in which a child lacks the thymus gland, a gland responsible for the maturation of T cells and regulation of immunity. The absence of parathyroid glands may also be associated with this disease.

Characteristic symptoms of DiGeorge syndrome

De Georg syndrome or Williams syndrome is a manifestation of thymic agenesis - a secondary hypoplastic syndrome. The thymus is a gland that controls the child's immunity and growth during infancy. In De Gehrig syndrome, the thymus does not develop, which leads to a weak immune system and an increased risk of developing infectious diseases.

Symptoms of De Guerogh syndrome include decreased immunity, heart disease, hearing loss, epilepsy, problems with speech development, and risk of sudden infant death syndrome (SIDS). Children with this syndrome are susceptible to diseases caused by Candida fungi, especially at an early age.

De Guerg syndrome can be caused by a variety of reasons, including genetic defects or exposure to certain chemicals during pregnancy. If you know your child has this condition, it is important to monitor their health and treatment for illnesses. Some measures that can help manage this disease include taking immunoglobulins, a special diet and immunotherapy.

In general, De Guerg syndrome is a serious disease that can lead to disability and even death of a child. However, early detection of this disease and appropriate treatment can significantly improve the child's quality of life and his chances for a successful future.