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一名患有威斯科特-奥尔德里奇综合征蛋白(WASP)基因突变的患者成功进行了肾移植。

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

作者信息

Chovancova Zita, Kuman Milan, Vlkova Marcela, Litzman Jiri

机构信息

Department of Clinical Immunology and Allergy, St. Anne's University Hospital, Brno, Czech Republic.

Faculty of Medicine, Masaryk University, Brno, Czech Republic.

出版信息

Transpl Int. 2015 Aug;28(8):1005-9. doi: 10.1111/tri.12583. Epub 2015 Apr 30.

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.

摘要

威斯科特-奥尔德里奇综合征(WAS)是一种罕见的原发性免疫缺陷疾病,由威斯科特-奥尔德里奇综合征蛋白(WASP)基因突变引起。进展为肾衰竭的肾脏疾病是WAS患者中一种广为人知的并发症。迄今为止,仅有少数肾移植病例报告。在此,我们报告一名携带WASP突变的患者,该患者患有严重特应性皮炎、轻度血小板减少症,感染频率仅略有增加,随后发展为IgA肾病,因此接受了肾移植,且移植成功。本研究表明,无论有无可能出现的并发症,WAS患者都有可能接受肾移植。

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