Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

被引：133
作者：
Hirano, M.
Marti, R.
Casali, C.
Tadesse, S.
Uldrick, T.
Fine, B.
Escolar, D. M.
Valentino, M. L.
Nishino, I.
Hesdorffer, C.
Schwartz, J.
Hawks, R. G.
Martone, D. L.
Cairo, M. S.
DiMauro, S.
Stanzani, M.
Garvin, J. H., Jr.
Savage, D. G.
机构：
[1] Columbia Univ, Ctr Med, Dept Neurol, New York, NY 10032 USA
[2] Columbia Univ, Ctr Med, Div Hematol & Oncol, New York, NY 10032 USA
[3] Columbia Univ, Ctr Med, Dept Med, New York, NY 10032 USA
[4] Columbia Univ, Ctr Med, Div Hemotherapy & Transfus, Dept Pathol, New York, NY 10032 USA
[5] Columbia Univ, Ctr Med, Dept Pediat, New York, NY 10032 USA
[6] Univ Hebron, Inst Rec Hosp, Lab Patol Mitocondrial, Barcelona, Spain
[7] Univ Roma La Sapienza, Dept Neurol, I-00185 Rome, Italy
[8] Univ Roma La Sapienza, ORL, I-00185 Rome, Italy
[9] IRCCS, Rome, Italy
[10] Childrens Natl Med Ctr, Dept Pediat, Washington, DC 20010 USA
[11] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA
[12] Natl Hosp Mental Nervous & Muscular Disorders, Dept Neuromuscular Res, Natl Inst Neurosci, Natl Ctr Neurol & Psychiat, Kodaira, Tokyo, Japan
[13] Hackensack Univ, Med Ctr, Dept Hematol & Oncol, Hackensack, NJ USA
[14] Univ Bologna, Inst Hematol Seragnoli, Bologna, Italy
[15] Univ Bologna, S Orsola M Malpighi Hosp, Bologna, Italy
来源：
NEUROLOGY | 2006年 / 67卷 / 08期
关键词：
D O I：
10.1212/01.wnl.0000240853.97716.24
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 multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.
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收藏
页码：1458 / 1460
页数：3
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