Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients over...

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Bibliographic Details
Published in:Journal of neurology 2020-12, Vol.267 (12), p.3702-3710
Main Authors: D’Angelo, Roberto, Boschetti, Elisa, Amore, Giulia, Costa, Roberta, Pugliese, Alessia, Caporali, Leonardo, Gramegna, Laura Ludovica, Papa, Valentina, Vizioli, Luca, Capristo, Mariantonietta, Contin, Manuela, Mohamed, Susan, Cenacchi, Giovanna, Lodi, Raffaele, Morelli, Maria Cristina, Fasano, Luca, Pisani, Lara, Cescon, Matteo, Tonon, Caterina, Pinna, Antonio Daniele, Dotti, Maria Teresa, Sicurelli, Francesco, Scarpelli, Mauro, Filosto, Massimiliano, Casali, Carlo, Pironi, Loris, Carelli, Valerio, De Giorgio, Roberto, Rinaldi, Rita
Format: Article
Language:English
Subjects:
Anemia
Biopsy
Blood
Fever
Hematopoietic stem cells
Immunosuppressive agents
Leukoencephalopathy
Liver
Liver transplantation
Liver transplants
Malnutrition
Medicine
Medicine & Public Health
Mitochondrial DNA
Mortality
Mutation
Neurology
Neuropathy
Neuroradiology
Neurosciences
Nucleosides
Nutrition
Original Communication
Ostomy
Parenteral nutrition
Patients
Phosphorylase
Plasma
Stem cell transplantation
Thymidine
Thymidine phosphorylase
Ventilation
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Summary:We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-020-10051-x