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Primary immunodeficiency: how to identify and treat

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Primary Immunodeficiency, or PID, corresponds to changes in components of the immune system, which makes the person more susceptible to several diseases, since the immune system does not work properly. The main indicative sign of PID is the occurrence of recurrent bacterial infections, mainly sinusitis, otitis and pneumonia.

Primary Immunodeficiency is a genetic and congenital disease and is more common in the case of consanguineous marriage, which is the marriage between people of the same family, and generally the diagnosis is not made immediately after birth due to the lack of knowledge about these diseases. However, early diagnosis is essential to ensure well-being and quality of life for the child, in addition to avoiding serious complications that can result in death, for example.

How to identify

The symptoms of primary immunodeficiency usually appear in the first months of life, however, in some cases, the symptoms may appear only in adulthood, as it depends on the type and severity of the mutation. These symptoms can be seen anywhere on the body, with symptoms mainly related to the respiratory system.

As the symptoms of primary immunodeficiency can be confused with childhood respiratory and infectious diseases, it is important to be aware of some symptoms, such as:

  • 4 or more ear infections in less than 1 year; 2 or more respiratory tract infections in less than 1 year; Use of antibiotics for more than 2 months without having an effect; More than two cases of pneumonia in less than 1 year; Delayed child development; Recurrent intestinal infections; Emergence of vaccine complications; Frequent appearance of skin abscesses.

In addition, if the family has a history of primary immunodeficiency or the child is the daughter of a blood partner, there is a greater chance of having primary immunodeficiency.

It is important for parents to be aware of the symptoms presented by the child and the occurrence of recurrent infections so that the diagnosis is made and treatment is started as soon as possible to avoid serious complications, such as severe respiratory impairment and septicemia, which can be fatal.. Know how to recognize the symptoms of septicemia.

How is the diagnosis

The diagnosis of primary immunodeficiency can be made together with the heel prick test shortly after the baby is born and it is made using the same blood sample that was collected for the heel prick test. From this blood sample, the DNA is extracted and amplified so that it is verified that the cells of the immune system are developing correctly and, if changes are identified, the mutation responsible for the change in the immune system is investigated. Understand how the immune system works.

It is important that the diagnosis of primary immunodeficiencies is made until the first year of life so that it is possible to advise the family on the treatment and care necessary to maintain the child's well-being and avoid complications. Despite being a fundamental exam, the primary immunodeficiency diagnosis test is not available through the Unified Health System, only in private clinics and costs an average of R $ 100.00.

Primary Immunodeficiency Treatment

The treatment of Primary Immunodeficiency should be carried out according to the pediatrician's guidance and varies according to the symptoms presented by the child, severity and stage of identification.

When the PID is identified immediately or the symptoms presented are mild, the pediatrician may recommend therapy with immunoglobulins, in which antibodies that are missing in the body are administered, improving the activity of the immune system. However, when it comes to severe PID, which may be due to a later diagnosis or the presence of mutations that compromise immunity, bone marrow transplantation may be necessary. See how the bone marrow transplant is done.

In addition, administration of antibiotics directly into the vein may be recommended to combat recurrent infections.

Primary immunodeficiency: how to identify and treat