A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene. Issue 5 (5th July 2022)

• Record Type: Journal Article
• Authors: Matsuoka, Chika; Taira, Yuki; Sasaki, Ryo; Matsumoto, Namiko; Tadokoro, Koh; Nomura, Emi; Kawahara, Yuko; Takemoto, Mami; Morihara, Ryuta; Hashiguchi, Akihiro; Takashima, Hiroshi; Takeuchi, Hidemi; Araki, Motoo; Abe, Koji; Yamashita, Toru
• Is Part Of: Neurology and clinical neuroscience. Volume 10:Issue 5(2022)
• Page Start: 252
• Page End: 254
• Publication Date: 2022-07-05
• Subjects: CMT disease -- FSGS -- INF2 gene -- renal transplantation; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12651
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: 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.