中国法布雷病诊疗专家共识(2021年版)

法布雷病是一种罕见的X连锁遗传溶酶体贮积症,是由于GLA基因突变导致α半乳糖苷酶A(α-Gal A)活性降低或完全缺乏,造成代谢底物三己糖酰基鞘脂醇(GL-3)及其衍生物脱乙酰基GL-3(Lyso-GL-3)在多脏器贮积,引起多脏器病变甚至引发危及生命的并发症。由于法布雷病缺乏特异性症状,因此需结合临床表现、酶活性、生物标志物及基因检测等结果协助临床早期诊断。随着阿加糖酶β和阿加糖酶α在我国获批上市,将为我国法布雷病患者带来特异性治疗的福音。本共识以循证医学为基础,对法布雷病的临床表现、诊断方法和流程、治疗、筛查、遗传咨询与产前诊断等方面进行阐述,为推动法布雷病的规范化诊疗提供依据。

Expert consensus for diagnosis and treatment of Fabry disease in China (2021)

Fabry disease is a rare X-linked genetic lysosomal storage disorder caused by mutations in the GLA gene,which results of reduced or absent activity ofα-galactosidase A,accumulation of metabolic substrates globotriaosylceramide(GL-3)and derivatives deacylated derivative globotriaosylsphingosine(Lyso-GL-3)in multiple tissues,and multi-organ diseases and even life-threatening complications.Due to the lack of specific symptoms,there is a need to combine the clinical features and the results of enzymatic,biochemical,and genetic tests to realize the early definite diagnosis of Fabry disease.Furthermore,the approval of agalsidase beta/alpha in China will benefit the vast Chinese patients for Fabry disease specific therapies.Based on the evidence-based medicine,this consensus summarizes several main aspects related to Fabry disease,including clinical manifestations,diagnosis and its flow chart,therapies,screening,genetic counseling and prenatal diagnosis,so as to further promote the standardized diagnosis and treatment of Fabry disease.