骨髓移植用于先天性红色素质形症
L Kauffman1, D I Evans, R F Stevens
1Bone Marrow Transplant Unit, Royal Manchester Children's Hospital, UK.
Lancet (London, England)
|June 22, 1991
概括
骨髓移植显著降低了先天性红色素质病患者的氨酸过量产生. 尽管移植后发生了致命的感染,但早期结果表明这种罕见的遗传性疾病可能对患者有好处.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
背景情况:
- 先天性红色素质 (CEP) 是一种罕见的血红素合成遗传性疾病.
- 它是由骨髓常态细胞中的尿素氨基素III合成酶缺乏引起的.
- 泌尿素和共素的积累导致光敏感性和氧化损伤.
研究的目的:
- 评估骨髓移植 (BMT) 在治疗先天性红色素质症的疗效.
- 评估 BMT 对尿素氨酸过量产生和临床症状的影响.
主要方法:
- 一个患有CEP的10岁女孩从一个与HLA相同的兄弟姐妹那里接受了骨髓移植.
- 通过评估尿波林水平和光敏感性临床征兆来监测治疗的疗效.
主要成果:
- 在BMT后,尿波氨酸的过度生产大幅减少.
- 与光敏感性相关的皮肤变化显示逆转.
- 患者在移植后的8个月内经历了令人鼓舞的临床改善.
结论:
- 骨髓移植证明了在治疗先天性红色素质症方面具有潜在的治疗益处.
- 尽管患者最终死于细胞巨乳病毒感染,但最初的积极反应突出显示BMT是这种严重遗传性疾病的可行治疗选择.
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