儿童法布里病的诊断及治疗进展

Progress in Diagnosis and Treatment of Children having Fabry Disease

法布里病(FD)是一种罕见的进行性的X连锁遗传溶酶体贮积症。GLA基因突变导致α半乳糖苷酶Aα⁃Gal A)缺乏,鞘糖脂尤其是三己糖酰基鞘脂醇(GL⁃3)及其衍生物脱乙酰基三己糖酰基鞘脂醇(Lyso⁃GL⁃3)在全身各种细胞中积聚,造成多器官病变。儿童常见的症状包括神经病理性疼痛、胃肠功能障碍、血管角化瘤、角膜涡状浑浊等。临床表现缺乏特异性,诊断往往延迟,需要结合α⁃Gal A活性、GL⁃3和Lyso⁃GL⁃3水平、病理及基因检测明确诊断。早期开始酶替代治疗可有效缓解症状和体征,延缓疾病进展。

Fabry disease(FD)is a rare progressive X⁃linked genetic lysosomal storage disorder.Mu⁃tations of the GLA gene result in deficiency ofα⁃galactosidase(α⁃Gal A),and the accumulation of glycosphingolipids,particularly globotriaosylceramide(GL⁃3)and derivatives deacylated derivative globotriaosylsphingosine(Lyso⁃GL⁃3)in multiple tissues of the body systems,eventually leading to lesions in multiple organs.The symptoms commonly seen in childhood include neuropathic pain,gastrointestinal dysfunction,an⁃giokeratoma and cornea verticillata,and others.The fact that early symptoms are not specific usually causes the delay in diagnosis of Fabry disease.Making definite diagnosis needs to involve the activity of α⁃Gal A,GL⁃3,Lyso⁃GL⁃3,biomarkers,pathology and genetic tests.The early start of treatment using enzyme replacement therapy(ERT)is effective in alleviating the signs and symptoms of Fabry disease and in preventing dis⁃ease progression.