Ciftciler Rafiye, Goker Hakan, Buyukasık Yahya, Topcu Meral, Gevher Nesive, Demiroglu Haluk
Hacettepe Universty, Faculty of Medicine, Department of Hematology, Turkey.
Hacettepe Universty, Faculty of Medicine, Department of Hematology, Turkey.
Transfus Apher Sci. 2020 Feb;59(1):102583. doi: 10.1016/j.transci.2019.06.019. Epub 2019 Jul 22.
X-linked adrenoleukodystrophy (X-ALD), a progressive neurometabolic disorder that is caused by a defect in the gene ABCD1 (ATP-binding cassette, subfamily D, member 1), which encodes the peroxisomal ABC half-transporter ALD protein. Recently, allogeneic hematopoietic stem cell transplantation (alloHSCT) is the only therapy known to prevent disease progression. In this study, we would like to present our experience of alloHSCT for X-ALD from a HLA matched related sibling by the use of reduced intensity conditioning regimen composed of fludarabine, busulfan and ATG which allows us to reduce procedure-related toxicity and prevent mortality while achieving a curative effect.
X 连锁肾上腺脑白质营养不良（X-ALD）是一种进行性神经代谢疾病，由 ABCD1 基因（ATP 结合盒，D 亚家族，成员 1）缺陷引起，该基因编码过氧化物酶体 ABC 半转运蛋白 ALD 蛋白。最近，异基因造血干细胞移植（alloHSCT）是已知的唯一可预防疾病进展的疗法。在本研究中，我们想介绍我们使用由氟达拉滨、白消安和抗胸腺细胞球蛋白组成的低强度预处理方案，对 HLA 匹配的相关同胞供者进行 X-ALD 的 alloHSCT 的经验，该方案使我们能够降低与手术相关的毒性并预防死亡，同时达到治愈效果。
