TY - JOUR
T1 - Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
T2 - clinical long-term follow-up and pathogenic implications
AU - D’Angelo, Roberto
AU - Boschetti, Elisa
AU - Amore, Giulia
AU - Costa, Roberta
AU - Pugliese, Alessia
AU - Caporali, Leonardo
AU - Gramegna, Laura Ludovica
AU - Papa, Valentina
AU - Vizioli, Luca
AU - Capristo, Mariantonietta
AU - Contin, Manuela
AU - Mohamed, Susan
AU - Cenacchi, Giovanna
AU - Lodi, Raffaele
AU - Morelli, Maria Cristina
AU - Fasano, Luca
AU - Pisani, Lara
AU - Cescon, Matteo
AU - Tonon, Caterina
AU - Pinna, Antonio Daniele
AU - Dotti, Maria Teresa
AU - Sicurelli, Francesco
AU - Scarpelli, Mauro
AU - Filosto, Massimiliano
AU - Casali, Carlo
AU - Pironi, Loris
AU - Carelli, Valerio
AU - De Giorgio, Roberto
AU - Rinaldi, Rita
N1 - Ricercatore distaccato presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Gramegna Laura Ludovica, Contin Manuela, Lodi Raffaele,Tonon Caterina, Carelli Valerio)
PY - 2020/12
Y1 - 2020/12
N2 - 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.
AB - 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.
KW - Allogenic hematopoietic stem cell transplantation
KW - Liver transplantation
KW - Mitochondrial neurogastrointestinal encephalomyopathy
KW - Thymidine phosphorylase
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U2 - 10.1007/s00415-020-10051-x
DO - 10.1007/s00415-020-10051-x
M3 - Article
C2 - 32683607
AN - SCOPUS:85088097701
VL - 267
SP - 3702
EP - 3710
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 12
ER -