异基因干细胞移植可纠正MNGIE中的生化紊乱。
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
作者信息
Hirano M, Martí 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, Savage D G
机构信息
Department of Neurology, Columbia University Medical Center, 630 W. 168 St., P&S 4-443, New York, NY 10032, USA.
出版信息
Neurology. 2006 Oct 24;67(8):1458-60. doi: 10.1212/01.wnl.0000240853.97716.24. Epub 2006 Sep 13.
Abstract
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.
摘要
线粒体神经胃肠性脑肌病（MNGIE）是一种由于原发性胸苷磷酸化酶（TP）缺乏导致的多系统常染色体隐性疾病。为恢复TP活性，我们对两名患者进行了减低强度的异基因干细胞移植（alloSCT）。第一例患者alloSCT未能成功植入，但第二例实现了混合供体嵌合，部分恢复了血沉棕黄层TP活性并降低了血浆核苷水平。因此，alloSCT可纠正MNGIE患者血液中的生化异常，但临床疗效仍未得到证实。
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