Wiskottov-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS), also known as eczema-thrombocytopenia immunodeficiency syndrome, is a rare X-linked recessive genetic disorder. X-linked inheritance refers to a specific type of inheritance involving genes located on the X chromosome. The syndrome is characterized by immunodeficiency and bleeding tendencies.

The syndrome is named after Dr. Robert Anderson Aldrich (1917–1998), an American pediatrician who described the condition in 1954, and Dr. Alfred Wiskott (1898–1978), a German pediatrician who first described the syndrome in 1937. Diagnosis is based on clinical features, blood smear analysis, and low levels of immunoglobulins. Typically, patients show low IgM levels, elevated IgA, and sometimes increased IgE.

Treatment:
Management of Wiskott-Aldrich syndrome currently focuses on alleviating symptoms. Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen, ketoprofen, and indomethacin should be avoided, as they can impair platelet function. For severely low platelet counts, transfusions may be necessary. Patients with frequent infections may receive intravenous immunoglobulins (IVIG) to boost immunity. Anemia caused by bleeding may require iron supplementation or blood transfusions.

• petechie (drobné bodkovité krvácanie do kože či slizníc) a modriny
• spontánne krvácanie z nosa
• krvavé hnačky
• ekzém sa vyvíja v priebehu prvého mesiaca života
• opakujúce sa bakteriálne infekcie
• splenomegália (zväčšená slezina)
• hladiny IgM sú znížené, IgA a IgE sú zvýšené, a IgG môže byť normálne, znížené alebo zvýšené