Children with rare genetic diseases are more likely to suffer from the disease in Lithuania than in other countries



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"Immunodeficiencies are very rare diseases," said Dr. Kozakova, MD, head of the Children's Oncohaematology Center. Elena Rascon – and that's one of the main reasons why they have to transplant the bone marrow. "After establishing the Center of Excellence for Primary Immunodeficiencies and Acquired in the Children's Hospital, an effective and timely diagnosis was initiated to identify these patients, and for this purpose expensive genetic tests were launched. to help determine precisely the type of immunodeficiency in the hospital.

"In Lithuania, we have more serious cases of diseases than the immune system: 1-2 children get sick each year, although overall statistics show that these cases should not be more than 1.5 every three years, "says Dr. J. Rascon.

Combined immunodeficiency is an inherited genetic disease, when a child gets sick with a bad gene specific to his father and the other to a mother, although both parents are in good health.The disease occurs after the fourth month of the baby's life, until the Child either protected from the immunity of the mother.A disease in the form of mild immunodeficiency, a person can live a life full of life, constantly receiving immunoglobulin injections. Combined immunodeficiencies, chronic granulomatous diseases, primary hemophagocytosis and in other cases where the immune cells themselves, the lymphocytes, do not function properly in humans, can not be a good cause of disease without bone marrow transplant.

Bone marrow transplantation is practiced not only for oncological and blood diseases as usual, but also for rare genetic diseases such as metabolism or immunodeficiency.

A two-year-old boy in the children's hospital who had had an immunocompromised transplant last year, had particularly severe damage to the immune system.

"The child lived in the hospital for nearly a year, did not get fat, suffered from respiratory failure, constant diarrhea, d & # 39; rash and attacked the infection.The only way to correct this defect was to transplant the bone marrow, give the child a new immunity.We did it by finding the right donor to the "But the trouble did not stop there: there was a severe and complicated evolution of the disease after transplantation, there was a specific infection due to the bacteria used for the TB vaccine," Dr. Dr. J. Rascon

Having undergone several cycles of antebiotics for graft versus host disease, other infections, the immune system of the child is restored after one year, and doctors believe that the child will continue to continue his treatment at home.In the countries of the world, the va combined neonatal ccination was introduced. The reason is simple: early infantile immune cells are pbaded on to the child until the child still needs respiratory failure, clusters suffer from infections severe, the longer the period after transplantation is better and less expensive for the state.

  • How immunodeficiencies are reported in children, or the ten warning signs of immunodeficiency:

    1. Four or more hearing infections per year
    2. Two or more serious sinus infections in one year.
    3. Two or more months of antibiotic treatment with no significant effect
    4. Two or more pneumonias in one year
    5. A child with severe weight gain, a normal developmental disorder
    6. Repetitive cutaneous and intestinal ulcers
    7. ] Fungal skin infections
    8. Need for intravenous antibiotic therapy to eliminate the infection.
    9. Infected infections at least twice, including blood contamination
    10. The family has primary immunodeficiency.

    Jolanta Normantiene

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