Abstract
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.
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Mitocon Onlus supported all our research and initiatives. The two (or more) of the/several author(s) of this publication is/are (a) member(s) of the European Reference Network for Neuromuscolar Diseases (ERN-NMD).
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RDA, EB, GA, LPir, VC, RDG, and RR conceived and designed the study, analyzed the data and drafted a significant portion of the manuscript, figures and table. RC, AP, LC, LLG, VP, LV, MCa, MCo, SM, GC, RL, MCM, LF, LPis, MTD, FS, and CT acquired and analyzed data and drafted a significant portion of the figures and table. CC, MCe, MS, MF, and ADP contributed to study design.
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The study was approved by the St. Orsola-Malpighi Hospital Ethic Committee (Protocol No. 15/2016/O/Sper).
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D’Angelo, R., Boschetti, E., Amore, G. et al. Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications. J Neurol 267, 3702–3710 (2020). https://doi.org/10.1007/s00415-020-10051-x
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DOI: https://doi.org/10.1007/s00415-020-10051-x