CHOVANCOVÁ, Zita, M. KUMAN, Marcela VLKOVÁ and Jiří LITZMAN. Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation. Transplant international. Hoboken: Wiley-Blackwell, 2015, vol. 28, No 8, p. 1005-1009. ISSN 0934-0874. doi:10.1111/tri.12583.
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Basic information
Original name Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation
Authors CHOVANCOVÁ, Zita (203 Czech Republic, belonging to the institution), M. KUMAN (203 Czech Republic), Marcela VLKOVÁ (203 Czech Republic, belonging to the institution) and Jiří LITZMAN (203 Czech Republic, belonging to the institution).
Edition Transplant international, Hoboken, Wiley-Blackwell, 2015, 0934-0874.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30200 3.2 Clinical medicine
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 2.835
RIV identification code RIV/00216224:14110/15:00084173
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1111/tri.12583
UT WoS 000358085900015
Keywords in English IgA nephropathy; immunodeficiency; renal transplantation; Wiskott-Aldrich syndrome
Tags EL OK
Tags International impact
Changed by Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 2/5/2016 10:12.
Abstract
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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EE2.3.30.0009, research and development projectName: Zaměstnáním čerstvých absolventů doktorského studia k vědecké excelenci
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