Fanconi anemia in children

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Fanconi anemia in children

Diagnosis of Fanconi anemia is in the competence of specialists. Self-diagnosis will not succeed. The disease can occur in people who do not have congenital malformations and manifest only in adulthood. Therefore, in addition to external symptoms, you should carefully study the family history.

Conducting a general blood test in the early stages of the disease will give a picture of thrombocytopenia and leukopenia. As the pathology progresses, the level of fetal hemoglobin increases against the background of a decrease in all blood cells (pancytopenia).

To confirm the diagnosis, a test with diepoxybutane or mitomycin C is performed. The effect of accumulation of peripheral blood mononuclear cells in the G2 / M phase is also revealed. Confirm pathology allows the establishment of mutated genes.

Patient examination involves performing a myelogram (studying bone marrow cells with puncture).

Treatment

Treatment of Fanconi anemia is based on stem cell transplantation, the appointment of androgens, and replacement therapy.

If the level of ferritin in the blood exceeds 1000 ng / ml, then chelation therapy is carried out. With a decrease in the number of neutrophils less than 500 cells / ml, androgens (oxymetalone, methandrostenolone) and hematopoietic growth factors are prescribed. The effect of the treatment can be seen not earlier than a month from the beginning. Pronounced hypoxia requires a transfusion of platelet and / or erythrocyte mass. In some cases, the spleen is removed.

If a child does not undergo bone marrow transplantation, he is vaccinated with inanimate vaccines, and Mantoux is also performed.

The presence of malignant neoplasm complicates the course of the disease. This makes the therapy complex and often ineffective, especially when radiation therapy is necessary. The cells of the patient are highly sensitive to such an effect, which causes high toxicity and the probability of death.

The average lifespan of people with Fanconi anemia is 30 years, although it all depends on how badly the bone marrow is damaged.

The patient should be registered with a hematologist, which allows monitoring his health, at early stages to detect and treat cancers, hemorrhagic complications and infections.

General principles of management of patients with Fanconi anemia:

  • Gentle mode of life. Avoid contacts with carcinogens, for example, with hair dye, organic solvents, etc.

  • Protection against hypothermia.

  • Timely treatment of viral and bacterial infections.

  • Quality food.

  • Once a year the patient should be examined by narrow specialists (cardiologist, nephrologist, ophthalmologist, etc.). Visit a hematologist will be required 1 time in 1-3 months or even more often.

  • Myelogram is performed once a year, and once every six months, ultrasound of internal organs is performed.

In some cases, children are transferred to home schooling, they are limited in physical activities.

A child with Fanconi anemia is recognized as a disabled child. In adulthood, a person must undergo MEDN for disability.

The only method that makes it possible to get rid of Fanconi anemia is bone marrow transplantation. However, this procedure involves a number of difficulties. It is quite difficult to select a donor, the ideal carrier of the bone marrow for transplant is an identical twin. The transplantation requires radiation or chemotherapy, which can provoke serious complications, up to a lethal outcome.

Measures for the prevention of Fanconi anemia are reduced to performing genetic studies during the planning of pregnancy.

Without treatment 80% of patients die after 2 years after diagnosis. After 4 years, this figure is equivalent to 100%. Therefore, the therapy of children with Fanconi anemia is a vital necessity.

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