Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report
Abstract 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 dise...
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| Format: | Article |
| Language: | English |
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BMC
2018-02-01
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| Series: | BMC Nephrology |
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| Online Access: | http://link.springer.com/article/10.1186/s12882-018-0816-6 |
| _version_ | 1811239564732268544 |
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| author | Kathryn Ducharlet Dominic Thyagarajan Francesco Ierino Lawrence P. McMahon Darren Lee |
| author_facet | Kathryn Ducharlet Dominic Thyagarajan Francesco Ierino Lawrence P. McMahon Darren Lee |
| author_sort | Kathryn Ducharlet |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-12T13:02:08Z |
| format | Article |
| id | doaj.art-0eac6b3e388b4b0aaa1e151f031dcaa5 |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-04-12T13:02:08Z |
| publishDate | 2018-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-0eac6b3e388b4b0aaa1e151f031dcaa52022-12-22T03:32:07ZengBMCBMC Nephrology1471-23692018-02-011911510.1186/s12882-018-0816-6Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case reportKathryn Ducharlet0Dominic Thyagarajan1Francesco Ierino2Lawrence P. McMahon3Darren Lee4Department of Renal Medicine, Eastern Health Clinical School, Monash UniversityDepartment of Neurosciences, Monash HealthDepartment of Nephrology, St Vincent’s Hospital MelbourneDepartment of Renal Medicine, Eastern Health Clinical School, Monash UniversityDepartment of Renal Medicine, Eastern Health Clinical School, Monash UniversityAbstract 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.http://link.springer.com/article/10.1186/s12882-018-0816-6Leigh syndromeEnd stage renal diseaseTransplantMitochondrial disorderDialysis |
| spellingShingle | Kathryn Ducharlet Dominic Thyagarajan Francesco Ierino Lawrence P. McMahon Darren Lee Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report BMC Nephrology Leigh syndrome End stage renal disease Transplant Mitochondrial disorder Dialysis |
| title | Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report |
| title_full | Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report |
| title_fullStr | Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report |
| title_full_unstemmed | Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report |
| title_short | Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report |
| title_sort | perioperative risk assessment for successful kidney transplant in leigh syndrome a case report |
| topic | Leigh syndrome End stage renal disease Transplant Mitochondrial disorder Dialysis |
| url | http://link.springer.com/article/10.1186/s12882-018-0816-6 |
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