Background: Leigh syndrome is a rare genetic neurometabolic disorder. It usually appears in infancy or early childhood, characterized by central nervous system retardation and multisystem involvement. Kidney dysfunction may occur due to mitochondrial dysfunction in Leigh syndrome. The high early mortality rate hides renal manifestations, raising concerns about the eligibility of these patients as kidney donors and the long-term effect of the graft. To date, there have been no reports on the utilization of kidneys from deceased donors with Leigh syndrome.
Methods: We retrospectively reviewed a case of kidney transplantation from a 2-year-old deceased donor to a 12-year-old recipient. The donor died of septicemia after perforated appendicitis. Predonation evaluation showed normal renal function and imaging. Organ procurement was performed under urgent conditions due to hemodynamic instability. The diagnosis of Leigh syndrome, caused by compound heterozygous NDUFAF6 mutations (c.371T>C and c.233_242del), was established after transplantation based on elevated serum lactate, characteristic neuroimaging, clinical history, and whole-exome sequencing.
Results: Throughout the 47-month follow-up, the recipient maintained stable graft function, with an estimated glomerular filtration rate (eGFR) of 117.5 mL/min/1.73 m² and no evidence of rejection or major complications. Although persistent microscopic hematuria was observed, a renal biopsy performed one-year post-transplantation revealed no significant abnormalities.

Overall, renal function remained consistently stable.
Conclusions: Our case suggests that kidney donation from individuals with Leigh syndrome due to NDUFAF6 mutations may be safe for transplantation, but careful evaluation is necessary.