摘要
遗传代谢性疾病对家庭、医疗机构乃至整个社会造成了极大的负担,近年来,造血干细胞移植(HSCT)对提高少数遗传代谢病患儿的生存率、改善生活质量方面做出巨大贡献,如黏多糖贮积症、X连锁肾上腺脑白质营养不良、球形细胞脑白质营养不良等。早期治疗,尤其在症状出现前行HSCT可获得较好的治疗效果,但其远期疗效及神经系统恢复情况有待今后进一步随访。新生儿筛查有助于早期诊断、降低剩余疾病负担和提高临床疗效。年龄、身体素质、移植时机、预处理方案均为影响预后的重要因素。将来,基因治疗可能成为一种潜在的治疗手段。
Inherited metabolic diseases cause great burden to the family,medical institutions and society. In rencent years,hematopoietic stem cell transplantation( HSCT) has largely contributed to the increased survival and quality of life of many children affected by inherited metabolic diseases,such as mydose storage,X linked adrenalero dystrophy,globular cell brain white dystrophy. Neonatal screening could enable earlier HSCT and this might significantly reduce residual disease burden and improve clinical outcome. Transplant is effective if performed in presymptomatic patients,and gene therapy could represent another potential future strategy in the treatment of inherited metabolic diseases. Age,physical quality,transplanting time and pretreatment of HSCT are important prognostic factors in these children.
出处
《医学综述》
2018年第2期254-260,共7页
Medical Recapitulate
关键词
遗传代谢性疾病
造血干细胞移植
基因治疗
新生儿筛查
Inherited metabolic diseases
Hematopoietic stem cell transplantation
Gene therapy
Neonatal screening
