Wiskott-Oadrich syndrome

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Wiskott-Oadrich syndrome

Wyscott-Aldrich syndrome is a genetic disease that is clinically manifested by eczema, thrombocytopenia, diarrhea with blood in the feces, and reduced resistance to infections due to impaired T and B lymphocyte function.

Pathomorphology

    • Multiple thrombosis of small arterioles of the kidneys, lungs, pancreas
    • Hyperplasia of the spleen, lymph nodes
    • Inflammatory processes in the skin. Frequency – 0.4 per 100,000 newborns (in the USA). Predominant age: newborns (symptoms unfold as the child grows). The predominant gender is male. Genetic aspects. All three types of inheritance are described: mainly X-linked (*301000, Xpl 1.23-pl 1.22, damage to the WAS, IMD2, THCt genes, less often recessive (277970, p) and dominant (*600903, R).

Clinical picture

    • During the neonatal period
    • Loose stools with blood
    • petechiae
    • Purpura.
    • In childhood
    • Eczema (during the first year of life)
    • Secondary skin infections
    • pneumonia
    • Otitis media
    • Herpetic lesions of the eyes (and skin)
    • Hepatosplenomegaly.

Laboratory research

    • Thrombocytopenia (platelet count less than 100 x 109/l, platelet size is less than normal)
    • Low serum IgM
    • Low content of isohemagglutinins
    • Normal or elevated levels of IgE and IgA
    • Normal content of IgG
    • Low content of CD8 protein (in 61% of patients).

Special studies. Bone marrow examination excludes bone marrow aplasia and/or leukemia. Differential Diagnosis

    • Eczema
    • Other causes of thrombocytopenia
    • Bronchitis
    • Lymphomas.

Treatment

    • Platelet transfusion
    • Intravenous infusion of immunoglobulins
    • Glucocorticoids and immunosuppressants are ineffective in the treatment of thrombocytopenia
    • Powerful antibiotic therapy (for infectious complications)
    • Bone marrow transplantation (it is desirable that the donor and recipient are compatible according to the HLA system) – the method alleviates the course of all symptoms of the disease, with the exception of thrombocytopenia
    • Splenectomy for severe thrombocytopenia.

Complications

    • Severe infections – especially after splenectomy
    • Hemorrhagic syndrome
    • Malignant neoplasms (lymphoreticular tumors, leukemias, Koposi’s sarcoma)
    • Nephropathy
    • Autoimmune diseases, including immune thrombocytopenia and hemolytic anemia
    • Malabsorption syndrome.

Course and forecast

    • The course can be acute and chronic
    • Previously, patients with Wiskott-Aldrichaushrali syndrome under the age of 10 years, now life expectancy has increased (some patients live up to 20-30 years)
    • The most common causes of death are infections (50%), bleeding (27%), malignant tumors (12%).

Prevention – genetic counseling

    • Carriers can be identified by the G6PD locus and other (including inactive) regions of the chp. X
    • In some cases, the diagnosis can be made in the prenatal period.

Synonym. Eczema-thrombocytopenia-immunodeficiency syndrome

ICD. D82.0 Wiskott-Aldrich syndrome

MS Wiskott-Aldrich Syndrome (301000, 277970, 600903)