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

机译:Wiskott-Aldrich综合征蛋白(WASP)基因突变的患者成功进行了肾移植

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摘要

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.
机译:Wiskott-Aldrich综合征(WAS)是由WAS蛋白(WASP)基因突变引起的罕见原发性免疫缺陷疾病。进展为肾功能衰竭的肾脏疾病是WAS患者公认的并发症。迄今为止,仅报道了几例肾移植病例。在这里,我们介绍了一名患有WASP突变的患者,该患者患有严重的特应性湿疹,轻度血小板减少症,并且感染的频率略有增加,然后发展为IgA肾病并因此接受了肾脏移植,这是成功的。这项研究表明,无论可能发生的并发症如何,WAS患者都可以进行肾脏移植。

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