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异染性脑白质营养不良(MLD)包含一组神经系统遗传性变性疾病,为芳基硫酸酯酶A(ASA)缺乏引起。临床症状严重,缺乏有效疗法,使本组硫脂-脂质沉积症成为产前诊断的主要适应症。对MLD可以做产前诊断,方法为借助羊膜穿刺术获得的并经过培养的羊膜细胞或在晚期妊娠时做胎儿镜检收集的胎儿血,用以测定ASA。上述方法的主要缺点是,万一有病胎,终止妊娠较晚。在妊娠8和12周之间通过滋养层活检能获得绒膜绒毛,从而在孕早期能诊断出数种代谢病。正常绒膜绒毛的ASA测定显示高度活性,提示在该组织诊断MLD是可能的。在芳基硫酸酯酶B(ASB)的抑制剂氯化钠
Metabolic Leukodystrophy (MLD) contains a group of hereditary degenerative diseases of the nervous system that are caused by lack of arylsulfatase A (ASA). Serious clinical symptoms, the lack of effective therapies, the group of lipid-lipid disorders become the main indications for prenatal diagnosis. Prenatal diagnosis of MLD can be performed by amniocentesis and passaged cultured amniotic cells or fetal blood collected during fetal fetus during late pregnancy for the determination of ASA. The main disadvantage of the above method is that in the event of a sick child, the termination of pregnancy is late. Villus villus can be obtained by trophoblast biopsy between weeks 8 and 12 of gestation, and several metabolic diseases can be diagnosed early in pregnancy. The ASA assay of normal chorionic villi shows a high degree of activity, suggesting that it is possible to diagnose MLD in this tissue. The inhibitor of aryl sulfatase B (ASB) sodium chloride