Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation
| Autor: | Marcela Vlková, Zita Chovancová, Milan Kuman, Jiri Litzman |
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| Rok vydání: | 2015 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty Adolescent Wiskott–Aldrich syndrome 030232 urology & nephrology macromolecular substances Gene mutation urologic and male genital diseases Gastroenterology Nephropathy 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Immunodeficiency 030304 developmental biology 0303 health sciences Transplantation biology business.industry Wiskott–Aldrich syndrome protein Glomerulonephritis IGA medicine.disease Kidney Transplantation Wiskott-Aldrich Syndrome 3. Good health Mutation Immunology Primary immunodeficiency biology.protein Complication business Wiskott-Aldrich Syndrome Protein |
| Zdroj: | Transplant International. 28:1005-1009 |
| ISSN: | 0934-0874 |
| 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. |
| Databáze: | OpenAIRE |
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