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法布莱(Fabry)病是一种罕见的x连锁隐性遗传的α-半乳糖苷酶A缺乏导致致糖苷神经鞘脂类成分堆积于组织器官引起的多系统疾病,Fabry病的诊断,因缺乏特征性的诊断标志,经常被误诊,往往是在心脏,肾脏等器官出现了明显的器质性改变后才发现和确诊,如何早期、准确诊断Fabry病患者是尚未完全解决的课题。Gb3是α-半乳糖苷酶A缺乏时储积物鞘糖脂的主要成分,是一个对疾病的诊断和评估进程有临床意义的指标,血浆中Gb3浓度和尿液中Gb3浓度的测定对Fabry病患者的诊断筛查和监测酶替代治疗效果有重要意义。
Fabry’s disease is a rare x-linked recessive alpha-galactosidase A deficiency that leads to the accumulation of glycosidic sphingolipid components in tissues and organs causing multiple system diseases, the diagnosis of Fabry’s disease, The lack of characteristic diagnostic signs, often misdiagnosed, is often found in the heart, kidneys and other organs after a significant organic changes were identified and confirmed, how early and accurate diagnosis of Fabry disease is not yet fully resolved. Gb3 is a major component of glycosphingolysate that accumulates in the absence of a-galactosidase A and is a clinically significant indicator of the disease’s diagnostic and evaluation process. Gb3 concentrations in plasma and urine Gb3 concentrations are important predictors of Fabry’s disease Diagnostic screening of patients and monitoring the effectiveness of enzyme replacement therapy is of great significance.