Wiskottův-Aldrichův syndrom onemocnění vyžadující včasnou transplantaci kmenových buněk krvetvorby

Title in English	Wiskott-Aldrich Syndrome Disease Requiring Early Transplantation of Hemopoietic Stem Cells
Authors	FORMÁNKOVÁ R. SEDLÁČEK P. FREIBERGER T. BARTŮŇKOVÁ J. ŠEDIVÁ A. MEJSTŘÍKOVÁ E. KESLOVÁ P. RAVČUKOVÁ B. VÁVRA V. LITZMAN J. PAŘÍZKOVÁ E. JABALI Y. SCHNEIDEROVÁ H. STARÝ J.
Year of publication	2009
Type	Article in Periodical
Magazine / Source	Česko-slovenská pediatrie
MU Faculty or unit	Faculty of Medicine
Citation
Field	Paediatry
Keywords	Wiskott-Aldrich syndrome; WASP gene; thrombocytopenia; eczema; primary immunodeficiency; transplantation of hemopoietic stem cells
Description	Wiskott-Aldrich syndrome (WAS) is a rare disease characterized by thrombocytopenia with small platelets, combined immunodeficiency and eczema. The disease is caused by the WASP gene, which is localized on chromosome X and is coding multifunctional intracellular protein WASp. The disease becomes clinically manifest by skin hemorrhage manifestations, epistaxis events, as well as bleeding from gingival and intestines exanthema and recurrent respiration infections. Increased occurrence of autoimmune diseases and malignancies was observed in patients with WAS. WAS is a very rare disease and because of that the diagnostics is not easy even at the present time. The diagnosis of WAS is to be considered in all cases of thrombocytopenia in combination with eczema and relapsing respiratory infections, small thrombocytes are typical for diagnosis. In the case of suspected WAS the child patient should be admitted to hematological center as early as possible and the center should confirm the diagnosis in collaboration with an immunological workplace together with molecular genetic examination and initiates the search for HLA-identical donor. The problem of necessary correct and early establishment of diagnosis is documented on case histories of 6 patients handed over to our workplace and indicated to allogenic transplantation of hemopoietic stem cells (SCT) in the years 1996 to 2007. SCT is presently the only possibility to cure up WAS and the successfulness is markedly dependent on early establishment of diagnosis and efficient prophylaxis and directed therapy of infectious complications.