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Title: | Perioperative risk assessment for successful kidney transplant in leigh syndrome: A case report. | Authors: | McMahon L.P.;Lee D.;Ierino F.;Thyagarajan D. ;Ducharlet K. | Institution: | (Ducharlet, McMahon, Lee) Department of Renal Medicine, Eastern Health Clinical School, Monash University, Level 2, 5 Arnold Street, Box Hill, Clayton, VIC, Australia (Thyagarajan) Department of Neurosciences, Monash Health, 246 Clayton Road, Clayton, VIC, Australia (Ierino) Department of Nephrology, St Vincent's Hospital Melbourne, 55 Victoria Parade, Fitzroy, VIC, Australia | Issue Date: | 12-Feb-2018 | Copyright year: | 2018 | Publisher: | BioMed Central Ltd. (E-mail: info@biomedcentral.com) | Place of publication: | United Kingdom | Publication information: | BMC Nephrology. 19 (1) (no pagination), 2018. Article Number: 23. Date of Publication: 01 Feb 2018. | Journal: | BMC Nephrology | 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(s): 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.Copyright © 2018 The Author(s). | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1186/s12882-018-0816-6 | Link to associated publication: | Click here for full text options | PubMed URL: | 29390978 [http://www.ncbi.nlm.nih.gov/pubmed/?term=29390978] | ISSN: | 1471-2369 (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/37407 | Type: | Article | Subjects: | clinical article delayed graft function diet therapy dietetics disease association disease exacerbation disease severity drug withdrawal end stage renal disease/su [Surgery] end stage renal disease/th [Therapy] fluid therapy gene mutation gene sequence heart ventricle hypertrophy hemodialysis human hyporeflexia immunosuppressive treatment intensive care *kidney graft kidney transplantation *Leigh disease/di [Diagnosis] *Leigh disease/th [Therapy] limb weakness limited mobility maintenance therapy male medical history migration muscle hypotonia myoclonus seizure nuclear magnetic resonance imaging *risk assessment seizure/dt [Drug Therapy] *surgical risk transthoracic echocardiography treatment response unsteady gait weakness young adult basiliximab carbamazepine/dt [Drug Therapy] mycophenolate mofetil/ae [Adverse Drug Reaction] mycophenolate mofetil/cb [Drug Combination] mycophenolate mofetil/do [Drug Dose] prednisolone/cb [Drug Combination] prednisolone/do [Drug Dose] propofol suxamethonium tacrolimus/cb [Drug Combination] tacrolimus/do [Drug Dose] Holter monitor drug dose reduction pancolitis/di [Diagnosis] pancolitis/si [Side Effect] *perioperative period physical examination postoperative care quality of life radiology adult anesthesia induction article Australia brain radiography cadaver kidney cardiovascular risk case report cerebellum atrophy/di [Diagnosis] Chinese dietetics disease association disease exacerbation disease severity drug dose reduction drug withdrawal end stage renal disease / surgery / therapy fluid therapy gene mutation gene sequence heart ventricle hypertrophy hemodialysis human hyporeflexia immunosuppressive treatment intensive care *kidney graft kidney transplantation *Leigh disease / *diagnosis / *therapy limb weakness limited mobility maintenance therapy male medical history migration muscle hypotonia myoclonus seizure nuclear magnetic resonance imaging pancolitis / diagnosis / side effect *perioperative period physical examination postoperative care quality of life radiology *risk assessment seizure / drug therapy *surgical risk transthoracic echocardiography treatment response unsteady gait weakness young adult Australia brain radiography anesthesia induction adult Article cadaver kidney cardiovascular risk case report cerebellum atrophy / diagnosis Chinese clinical article delayed graft function diet therapy |
Type of Clinical Study or Trial: | Case series or case report |
Appears in Collections: | Articles |
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