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Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation

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CHOVANCOVÁ Zita KUMAN M. VLKOVÁ Marcela LITZMAN Jiří

Druh Článek v odborném periodiku
Časopis / Zdroj Transplant international
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Doi http://dx.doi.org/10.1111/tri.12583
Obor Chirurgie včetně transplantologie
Klíčová slova IgA nephropathy; immunodeficiency; renal transplantation; Wiskott-Aldrich syndrome
Popis Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disorder caused by mutations in the WAS protein (WASP) gene. Renal disease progressing to renal failure is a well-recognized complication in patients with WAS. Only a few case reports of renal transplantation have been reported to date. Here, we present a patient with a WASP mutation who suffered from severe atopic eczema, mild thrombocytopenia and only a slightly increased frequency of infections, who then developed IgA nephropathy and consequently underwent renal transplantation, which was successful. This study demonstrates that renal transplantation is possible in patients with WAS, regardless of conceivable complications.
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