法布里病
医学
球三糖神经酰胺
酶替代疗法
肾病科
肾脏疾病
疾病
内科学
溶酶体贮存病
α-半乳糖苷酶
阶段(地层学)
重症监护医学
病理
古生物学
生物
出处
期刊:Clinical Nephrology
[Dustri-Verlag Dr. Karl Feistle]
日期:2017-07-01
卷期号:88 (S1): 44-47
被引量:7
摘要
Fabry disease (FD; OMIM 301500) is a rare X-linked systemic disease caused by a mutation of the GLA gene. Consequently, there is very low, or even absent, activity of the lysosomal enzyme α-galactosidase A (α-Gal A), resulting in the progressive accumulation of glycosphingolipids (predominantly, globotriaosylceramide (GL-3)) in various cells of different organs. Chronic progressive proteinuric kidney disease is one of the hallmarks of this disease, and it constitutes an important component of this condition's clinical picture. Many patients with FD develop advanced chronic kidney disease, and half of them progress to end-stage renal disease. Most male patients die before the age of 60 years. Specific treatment with enzyme replacement therapy (ERT) has been shown to be effective when treatment is started early enough, before irreversible changes can occur. Therefore, the early diagnosis of FD has become very important. However, in nephrology practice, too many patients are still being diagnosed in late and very advanced stages of the disease. Also, the number of diagnosed patients varies among different countries and regions. The reasons for this are numerous and diverse, and they mostly depend on the knowledge, awareness, and availability of diagnostic procedures. .
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