Fabry病的生物标志物研究进展

Research progress on biomarkers of Fabry's disease

Fabry病(FD)是一种罕见的X连锁隐性遗传溶酶体贮积病。以α?半乳糖苷酶A活性下降为特征,造成三己糖酰基鞘脂醇贮积在人体各器官、组织,导致严重并发症,影响患者预后。因此,使用特异性生物标记对患者进行早期诊断与分期、明确器官受累及监测疗效至关重要。Lyso?Gb3是建立诊断的重要生物标记,可评估致病基因突变。蛋白尿和血肌酐对监测肾损伤最有价值,肌钙蛋白I和高敏肌钙蛋白T可明确心肌损害。文章主要就FD相关靶器官如肾、心脏、神经系统损伤的标志物及其对疾病进展、疗效评价及预后评估的指导价值等进行综述。

Fabry disease(FD)is a rare X-linked lysosomal storage disorder.It is characterized by deficient activity ofα-ga-lactosidase A,which causes the storage of globotriaosylceramide in tissues and organs,leading to fatal complications and poor progno-sis.Therefore,it is essential to use the possibilities of specific biomarkers for early diagnosis,identification of organ involvement and therapy monitoring.Lyso-Gb3 is a valuable biomarker to establish the diagnosis and also important for evaluating the pathogenic muta-tions.Proteinuria and creatinine are the most valuable biomarkers to detect renal damage.Troponin I and high-sensitivity assays for car-diac troponin T can identify the patients with myocardial injury.This article mainly reviews the markers of FD-related target organs such as kidney,heart and nervous system damage and its guiding value fordisease progression,curative effect and prognosis evaluation.