Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

被引：66

作者：

De Giorgio, Roberto ^{[1
]}

Pironi, Loris ^{[1
]}

Rinaldi, Rita ^{[2
]}

Boschetti, Elisa ^{[1
]}

Caporali, Leonardo ^{[3
]}

Capristo, Mariantonietta ^{[3
]}

Casali, Carlo ^{[4
]}

Cenacchi, Giovanna ^{[5
]}

Contin, Manuela ^{[3
,5
]}

D'Angelo, Roberto ^{[1
,2
]}

D'Errico, Antonietta ^{[6
]}

Gramegna, Laura Ludovica ^{[5
]}

Lodi, Raffaele ^{[5
]}

Maresca, Alessandra ^{[3
]}

Mohamed, Susan ^{[3
]}

Morelli, Maria Cristina ^{[1
]}

Papa, Valentina ^{[5
]}

Tonon, Caterina ^{[5
]}

Tugnoli, Vitaliano ^{[5
]}

Carelli, Valerio ^{[3
,5
]}

D'Alessandro, Roberto ^{[3
]}

Pinna, Antonio Daniele ^{[1
]}

机构：

[1] Univ Bologna, Dept Surg & Med Sci, Bologna, Italy

[2] St Orsola Malpighi Hosp, Neurol Unit, Bologna, Italy

[3] IRCCS Inst Neurol Sci Bologna, Bologna, Italy

[4] Univ Roma La Sapienza, Dept Med Surg Sci & Biotechnol, Rome, Italy

[5] Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy

[6] Dept Specialized Diagnost & Expt Med, Bologna, Italy

来源：

ANNALS OF NEUROLOGY | 2016年 / 80卷 / 03期

关键词：

THYMIDINE PHOSPHORYLASE-DEFICIENCY; STEM-CELL TRANSPLANTATION; MNGIE SYNDROME; DEOXYURIDINE; MUTATIONS; PLASMA; DEPLETION; DELETIONS; DISORDER;

D O I：

10.1002/ana.24724

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE. Ann Neurol 2016;80:448-455

引用

页码：448 / 455

页数：8

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