دورية أكاديمية
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
| العنوان: | Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications |
|---|---|
| المؤلفون: | D'Angelo R., Boschetti E., Amore G., Costa R., Pugliese A., Caporali L., Gramegna L. L., Papa V., Vizioli L., Capristo M., Contin M., Mohamed S., Cenacchi G., Lodi R., Morelli M. C., Fasano L., Pisani L., Cescon M., Tonon C., Pinna A. D., Dotti M. T., Sicurelli F., Scarpelli M., Filosto M., Casali C., Pironi L., Carelli V., De Giorgio R., Rinaldi R. |
| المساهمون: | D'Angelo, R., Boschetti, E., Amore, G., Costa, R., Pugliese, A., Caporali, L., Gramegna, L. L., Papa, V., Vizioli, L., Capristo, M., Contin, M., Mohamed, S., Cenacchi, G., Lodi, R., Morelli, M. C., Fasano, L., Pisani, L., Cescon, M., Tonon, C., Pinna, A. D., Dotti, M. T., Sicurelli, F., Scarpelli, M., Filosto, M., Casali, C., Pironi, L., Carelli, V., De Giorgio, R., Rinaldi, R. |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Brescia: OPENBS - Open Archive UniBS |
| مصطلحات موضوعية: | Allogenic hematopoietic stem cell transplantation, Liver transplantation, Mitochondrial neurogastrointestinal encephalomyopathy, Thymidine phosphorylase |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/32683607; info:eu-repo/semantics/altIdentifier/wos/WOS:000549793600001; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11379/533439Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088097701 |
| DOI: | 10.1007/s00415-020-10051-x |
| الإتاحة: | https://doi.org/10.1007/s00415-020-10051-xTest http://hdl.handle.net/11379/533439Test |
| رقم الانضمام: | edsbas.30E00717 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s00415-020-10051-x |
|---|