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

Autor: D'Angelo R; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Clinica Neurologica Rete Metropolitana (NeuroMet), Neurologia AOU S. Orsola-Malpighi, Policlinico Sant'Orsola-Malpighi, Building #2, Via Albertoni, 15, 40138, Bologna, Italy. roberto.dangelo@aosp.bo.it., Boschetti E; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Amore G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Costa R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Pugliese A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Caporali L; UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Gramegna LL; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Papa V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Vizioli L; Department of Organ Insufficiency and Transplantation, St. Orsola-Malpighi University Hospital, Bologna, Italy., Capristo M; UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Contin M; UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Mohamed S; UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Cenacchi G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Lodi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Morelli MC; Department of Organ Insufficiency and Transplantation, St. Orsola-Malpighi University Hospital, Bologna, Italy., Fasano L; Respiratory and Critical Care Unit, St. Orsola-Malpighi University Hospital, Bologna, Italy., Pisani L; Respiratory and Critical Care Unit, St. Orsola-Malpighi University Hospital, Bologna, Italy., Cescon M; Department of Organ Insufficiency and Transplantation, St. Orsola-Malpighi University Hospital, Bologna, Italy., Tonon C; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Pinna AD; Department of Organ Insufficiency and Transplantation, St. Orsola-Malpighi University Hospital, Bologna, Italy., Dotti MT; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Sicurelli F; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Scarpelli M; Institute of Neurology, University of Verona, Verona, Italy., Filosto M; Center for Neuromuscular Diseases, Unit of Neurology, ASST 'Spedali Civili', Brescia, Italy., Casali C; Department of Medico-Surgical Sciences and Biotechnologies, University 'La Sapienza', Roma, Italy., Pironi L; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., De Giorgio R; Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, Italy., Rinaldi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Clinica Neurologica Rete Metropolitana (NeuroMet), Neurologia AOU S. Orsola-Malpighi, Policlinico Sant'Orsola-Malpighi, Building #2, Via Albertoni, 15, 40138, Bologna, Italy.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2020 Dec; Vol. 267 (12), pp. 3702-3710. Date of Electronic Publication: 2020 Jul 18.
DOI: 10.1007/s00415-020-10051-x
Abstrakt: 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.
Databáze: MEDLINE
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