摘要
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 an infrequent X-linked recessive hereditary disease,the cause is α-galactosidase-A deficiency induces the accumulation of glycosphingolipids in tissues and organs,which may influence multiple systems.Because there is no specific diagnostic marker,patients with Fabry＇s disease are frequently misdiagnosed.The patients are always being found and confirmed until obvious organic changes have occurred in heart and kidney,so the early and accurate diagnosis of Fabry＇s disease is a problem to be solved.Gb3 is the main component of glycosphingolipid which is the accumulation of α-galactosidase-A deficiency,so it is an important clinical marker in diagnosis and evaluation.The determination of serum Gb3 and urine Gb3 plays an important role on the diagnosis and screening of Fabry＇s disease,as well as effect monitoring of enzyme replacement therapy.
出处
《职业与健康》
CAS
2012年第10期1267-1268,共2页
Occupation and Health
