We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene.
- 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
- 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.
- Subjects
CHARCOT-Marie-Tooth disease; KIDNEY transplantation; GENETIC testing; GENETIC mutation; GLOMERULOSCLEROSIS; NEMALINE myopathy; FOCAL segmental glomerulosclerosis
- Publication
Neurology & Clinical Neuroscience, 2022, Vol 10, Issue 5, p252
- ISSN
2049-4173
- Publication type
Article
- DOI
10.1111/ncn3.12651