Perioperative risk assessment for successful kidney transplant in leigh syndrome: A case report

Kathryn Ducharlet, Dominic Thyagarajan, Francesco Ierino, Lawrence P. McMahon, Darren Lee

Research output: Contribution to journalArticleOtherpeer-review


Background: Leigh syndrome (LS) is a rare neurodegenerative mitochondrial disorder which typically presents in childhood but has a varied clinical course. Renal involvement such as proximal tubulopathy in patients with mitochondrial disorders has been described. However, end stage renal disease (ESRD) is uncommon and literature regarding patients undergoing kidney transplantation is limited. Successful deceased donor renal transplant has not been previously described in a patient with Leigh Syndrome. Case presentation: We report a 21-year-old Han Chinese man who presented with limb weakness and unsteady gait, which progressed rapidly over a period of months until he was wheelchair-bound. He subsequently developed ESRD and was commenced on hemodialysis. Investigations revealed a m.13513G > A mutation with clinical and radiological features consistent with LS. His mitochondrial disease stabilised and he underwent a multidisciplinary assessment for deceased donor kidney transplantation to identify and minimise the LS-associated perioperative risks and potential negative effects of immunosuppressants on his LS. Successful kidney transplantation followed with excellent graft function three and a half years post-transplant and improvement in the patient's physical function. Conclusion: This case highlights the importance of careful pre-transplant perioperative risk assessment and post-transplant care in a rare and heterogeneous neurological disease to achieve an ultimately excellent clinical outcome. To our knowledge, this is the first report of successful deceased donor kidney transplant in a patient with known LS.

Original languageEnglish
Article number23
Number of pages5
JournalBMC Nephrology
Issue number1
Publication statusPublished - 1 Feb 2018


  • Dialysis
  • End stage renal disease
  • Leigh syndrome
  • Mitochondrial disorder
  • Transplant

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