A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene

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.