摘要
法布雷病是一种罕见的X连锁遗传性溶酶体脂质贮积病,是由于GLA基因突变导致α-半乳糖酶A(α-Gal A)活性下降或缺失,引起鞘糖脂代谢紊乱,造成三己糖酰基鞘脂醇(GL-3)及其衍生物脱乙酰基GL-3(Lyso-GL-3)等糖鞘脂在组织中进行性累积,最终导致多器官系统病变。临床表现缺乏特异性,需结合酶活性、生物标志物GL-3和Lyso-GL-3的测定、病理及基因检测明确诊断。目前的治疗方法主要是酶替代疗法和口服药物伴侣。现就法布雷病的诊断和治疗进展进行综述。
Fabry disease is a rare X-linked hereditary lysosomal storage disease,which is caused by GLA gene mutation,reduced or absent activity ofα-galactosidase A(α-Gal A),which disturbs the glycosphingolipid metabolism and leads to accumulation of metabolic substrates globotriaosylceramide(GL-3)and its derivative deacetylated GL-3(Lyso-GL-3),which results in multiple organ diseases.Because the clinical manifestations lack specificity,it is necessary to combine the detection of enzyme activity,biomarker GL-3 and Lyso-GL-3,pathology and gene detection for early diagnosis.At present,the main treatment methods are enzyme replacement therapy and oral chaperone therapy.The purpose of this paper is to update the diagnosis and treatment of Fabry disease.
作者
陈秋霞
张爱华
Chen Qiuxia;Zhang Aihua(Department of Nephrology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2021年第17期1301-1304,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
法布雷病
诊断
治疗
Fabry disease
Diagnosis
Treatment
