Fabry disease: diagnostic methods in nephrology practice

Abstract

Fabry disease (FD; OMIM 301500) is a rare X-linked systemic disease caused by a mutation of the <italic>GLA</italic> 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. .