Viskotta-Aldrich's syndrome
Contents:
Description:
Viskotta-Aldrich's syndrome (SVO, English Wiskott-Aldrich syndrome — WAS) — the rare H-linked recessive disease characterized by existence of eczema, thrombocytopenia, an immunodeficiency, and the bloody diarrhea (caused by thrombocytopenia). A synonym — a syndrome of an eczema-thrombocytopenia-immunodeficiency according to the original description of Aldrich (English Aldrich) made in 1954. The combination of a syndrome of Viskotta-Aldrich to the H-linked thrombocytopenia occurs at 4-10 of 1 million which were born live. The geographical factor does not matter.
Symptoms of the Syndrome of Viskotta-Aldrich:
Viskotta-Aldrich's syndrome strikes only boys, is shown by the following symptoms: atopic dermatitis, a hemorrhagic syndrome (decrease in quantity of thrombocytes, hemoglobin, erythrocytes) and the combined deficit In - and T lymphocytes which leads to the repeating infectious processes (frequent ORZ, bronchopulmonary infections, infections of ENT organs, skin, mucous, urinary tract and a GIT). As the number of thrombocytes is lowered, bleeding, for example a bloody diarrhea can be the first symptom. Change of level of serumal immunoglobulins — low IgM, normal IgG, high IgA, very high IgE. Deficit In - and T - lymphocytes does children susceptible to the diseases caused by bacteria, viruses and mushrooms. Infectious damages of airways are widespread. At the children who lived up to 10-year age the risk of oncological diseases, for example a lymphoma and a leukosis is high.
Reasons of the Syndrome of Viskotta-Aldrich:
WAS gene responsible for development of this disease is localized on a short shoulder of X-chromosome in the Hp11.22 area.
Treatment of the Syndrome of Viskotta-Aldrich:
Radical treatment. As at patients with Viskott's syndrome — Aldrich the quantity of thrombocytes is reduced, and thrombocytes collapse in a spleen, the splenectomy often helps to reduce manifestations of a hemorrhagic syndrome. Transplantation of marrow is effective, however transplantation is complicated by difficulty in the choice of the donor (no more, than at 11% of patients it is possible to pick up the donor).
Conservative treatment. Performing replacement therapy by a packed red cells is possible at a considerable erythropenia. At massive bleedings hemotransfusion is shown (with care at patients with deep falling of T-cellular immunity). Antibiotics (cephalosporins, aminoglycosides, semi-synthetic penicillin, streptocides) — are effective concerning a bacterial flora. Transfusion of immunoglobulins is also reasonable.
Mode. Due to a high possibility of infection for the period of an aggravation it is necessary to place patients with Viskotta-Aldrich's syndrome in the box. For the same reasons for patients with Viskotta-Aldrich's syndrome stay in children's collective is contraindicated. Inoculations the live vaccines and drugs containing polisakharidny antigen are also contraindicated.
