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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| Veröffentlicht in: | Journal of neurology 2020-12, Vol.267 (12), p.3702-3710 |
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| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1007/s00415-020-10051-x |
| format | Article |
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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.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-020-10051-x</identifier><identifier>PMID: 32683607</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Anemia ; Biopsy ; Blood ; Clinical Neurology ; Fever ; Hematopoietic stem cells ; Immunosuppressive agents ; Leukoencephalopathy ; Life Sciences & Biomedicine ; Liver ; Liver transplantation ; Liver transplants ; Malnutrition ; Medicine ; Medicine & Public Health ; Mitochondrial DNA ; Mortality ; Mutation ; Neurology ; Neuropathy ; Neuroradiology ; Neurosciences ; Neurosciences & Neurology ; Nucleosides ; Nutrition ; Original Communication ; Ostomy ; Parenteral nutrition ; Patients ; Phosphorylase ; Plasma ; Science & Technology ; Stem cell transplantation ; Thymidine ; Thymidine phosphorylase ; Ventilation</subject><ispartof>Journal of neurology, 2020-12, Vol.267 (12), p.3702-3710</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>12</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000549793600001</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c368t-414793677e7b97adcfcd4bfaedd0dc29f6084debac722cd25ba19f5070b1688c3</citedby><cites>FETCH-LOGICAL-c368t-414793677e7b97adcfcd4bfaedd0dc29f6084debac722cd25ba19f5070b1688c3</cites><orcidid>0000-0002-5862-8074 ; 0000-0003-0867-5873 ; 0000-0002-0666-4380 ; 0000-0002-2884-6716 ; 0000-0003-1715-3794 ; 0000-0002-2852-7512 ; 0000-0001-9224-8158 ; 0000-0002-0718-2965 ; 0009-0002-9303-9299 ; 0000-0003-2278-2181</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00415-020-10051-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00415-020-10051-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,28253,41493,42562,51324</link.rule.ids></links><search><creatorcontrib>D’Angelo, Roberto</creatorcontrib><creatorcontrib>Boschetti, Elisa</creatorcontrib><creatorcontrib>Amore, Giulia</creatorcontrib><creatorcontrib>Costa, Roberta</creatorcontrib><creatorcontrib>Pugliese, Alessia</creatorcontrib><creatorcontrib>Caporali, Leonardo</creatorcontrib><creatorcontrib>Gramegna, Laura Ludovica</creatorcontrib><creatorcontrib>Papa, Valentina</creatorcontrib><creatorcontrib>Vizioli, Luca</creatorcontrib><creatorcontrib>Capristo, Mariantonietta</creatorcontrib><creatorcontrib>Contin, Manuela</creatorcontrib><creatorcontrib>Mohamed, Susan</creatorcontrib><creatorcontrib>Cenacchi, Giovanna</creatorcontrib><creatorcontrib>Lodi, Raffaele</creatorcontrib><creatorcontrib>Morelli, Maria Cristina</creatorcontrib><creatorcontrib>Fasano, Luca</creatorcontrib><creatorcontrib>Pisani, Lara</creatorcontrib><creatorcontrib>Cescon, Matteo</creatorcontrib><creatorcontrib>Tonon, Caterina</creatorcontrib><creatorcontrib>Pinna, Antonio Daniele</creatorcontrib><creatorcontrib>Dotti, Maria Teresa</creatorcontrib><creatorcontrib>Sicurelli, Francesco</creatorcontrib><creatorcontrib>Scarpelli, Mauro</creatorcontrib><creatorcontrib>Filosto, Massimiliano</creatorcontrib><creatorcontrib>Casali, Carlo</creatorcontrib><creatorcontrib>Pironi, Loris</creatorcontrib><creatorcontrib>Carelli, Valerio</creatorcontrib><creatorcontrib>De Giorgio, Roberto</creatorcontrib><creatorcontrib>Rinaldi, Rita</creatorcontrib><title>Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><addtitle>J NEUROL</addtitle><description>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.</description><subject>Anemia</subject><subject>Biopsy</subject><subject>Blood</subject><subject>Clinical Neurology</subject><subject>Fever</subject><subject>Hematopoietic stem cells</subject><subject>Immunosuppressive agents</subject><subject>Leukoencephalopathy</subject><subject>Life Sciences & Biomedicine</subject><subject>Liver</subject><subject>Liver transplantation</subject><subject>Liver transplants</subject><subject>Malnutrition</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mitochondrial DNA</subject><subject>Mortality</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neuropathy</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Neurosciences & 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transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications</title><author>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, 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Caterina</au><au>Pinna, Antonio Daniele</au><au>Dotti, Maria Teresa</au><au>Sicurelli, Francesco</au><au>Scarpelli, Mauro</au><au>Filosto, Massimiliano</au><au>Casali, Carlo</au><au>Pironi, Loris</au><au>Carelli, Valerio</au><au>De Giorgio, Roberto</au><au>Rinaldi, Rita</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><stitle>J NEUROL</stitle><date>2020-12-01</date><risdate>2020</risdate><volume>267</volume><issue>12</issue><spage>3702</spage><epage>3710</epage><pages>3702-3710</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>32683607</pmid><doi>10.1007/s00415-020-10051-x</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-5862-8074</orcidid><orcidid>https://orcid.org/0000-0003-0867-5873</orcidid><orcidid>https://orcid.org/0000-0002-0666-4380</orcidid><orcidid>https://orcid.org/0000-0002-2884-6716</orcidid><orcidid>https://orcid.org/0000-0003-1715-3794</orcidid><orcidid>https://orcid.org/0000-0002-2852-7512</orcidid><orcidid>https://orcid.org/0000-0001-9224-8158</orcidid><orcidid>https://orcid.org/0000-0002-0718-2965</orcidid><orcidid>https://orcid.org/0009-0002-9303-9299</orcidid><orcidid>https://orcid.org/0000-0003-2278-2181</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-5354 |
| ispartof | Journal of neurology, 2020-12, Vol.267 (12), p.3702-3710 |
| issn | 0340-5354 1432-1459 |
| language | eng |
| recordid | cdi_webofscience_primary_000549793600001CitationCount |
| source | SpringerNature Journals; Web of Science - Science Citation Index Expanded - 2020<img src="https://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /> |
| subjects | Anemia Biopsy Blood Clinical Neurology Fever Hematopoietic stem cells Immunosuppressive agents Leukoencephalopathy Life Sciences & Biomedicine Liver Liver transplantation Liver transplants Malnutrition Medicine Medicine & Public Health Mitochondrial DNA Mortality Mutation Neurology Neuropathy Neuroradiology Neurosciences Neurosciences & Neurology Nucleosides Nutrition Original Communication Ostomy Parenteral nutrition Patients Phosphorylase Plasma Science & Technology Stem cell transplantation Thymidine Thymidine phosphorylase Ventilation |
| title | Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-14T09%3A49%3A18IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_webof&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Liver%20transplantation%20in%20mitochondrial%20neurogastrointestinal%20encephalomyopathy%20(MNGIE):%20clinical%20long-term%20follow-up%20and%20pathogenic%20implications&rft.jtitle=Journal%20of%20neurology&rft.au=D%E2%80%99Angelo,%20Roberto&rft.date=2020-12-01&rft.volume=267&rft.issue=12&rft.spage=3702&rft.epage=3710&rft.pages=3702-3710&rft.issn=0340-5354&rft.eissn=1432-1459&rft_id=info:doi/10.1007/s00415-020-10051-x&rft_dat=%3Cproquest_webof%3E2837214148%3C/proquest_webof%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2837214148&rft_id=info:pmid/32683607&rfr_iscdi=true |