Chika Matsuoka, Yuki Taira, Ryo Sasaki, Namiko Matsumoto, Koh Tadokoro, Emi Nomura, Yuko Kawahara, M. Takemoto, R. Morihara, A. Hashiguchi, H. Takashima, Hidemi Takeuchi, M. Araki, K. Abe, T. Yamashita
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引用次数: 0
摘要
肾小球硬化症(FSGS)的局灶性和节段性区域有不同的亚类。在这里,我们报告了一名35岁的男性,他患有Charcot‐Marie‐Tooth病(CMT),FSGS携带INF2突变(c.206 T > C、 p.L69P)。INF2突变可能导致足细胞和施旺细胞的肌动蛋白丝异常,导致与FSGS相关的CMT。他成功地从一位INF2基因正常的母亲那里接受了活体供肾移植,没有任何严重的不良事件。基因检测后,INF2突变的识别使受体能够减少免疫抑制药物的使用。基因检测可以为肾移植提供治疗方案。
A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene
Focal and segmental areas of glomerular sclerosis (FSGS) have various subcategories. Here, we report on a 35‐year‐old man who suffered from Charcot‐Marie‐Tooth disease (CMT) with FSGS carrying the INF2 mutation (c.206 T > C, p.L69P). The INF2 mutation might cause abnormal actin filaments of the podocytes and Schwann cells, leading to CMT associated with FSGS. He successfully underwent living donor kidney transplantation from a mother with a normal INF2 gene without any serious adverse events. Following genetic testing, the identification of the INF2 mutation allows a recipient to reduce the use of immunosuppressive drugs. Genetic testing may provide a treatment plan for kidney transplantation.