Enzyme Replacement Therapy in the Treatment of Fabry Disease / 罕见病研究

ABSTRACT

Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of its substrates in the lysosomes of multiple organs and tissue that causes systemic damage and threatens the life of patients. Enzyme replacement therapy (ERT) is the standard of care for Fabry disease. ERT slows or prevents the progression of organ damage, effectively improving heart, brain, kidney functions and significantly improves quality of life. At present, there are two main ERT drugs, agalsidase alpha and agalsidase beta, which have the same amino acid sequence and different N-terminal sugars, and are used for the treatment of Fabry disease. In this paper, the efficacy and safety of ERT in the treatment of Fabry disease were summarized by reviewing the relevant literature at home and abroad and combining the results of some cases treated in Department of Nephrology, Provincial Hospital affiliated to Shandong First Medical University. Previous literature has shown that enzyme replacement therapy is the most important specific treatment for Fabry disease, which has a protective effect on important organs such as kidney, heart, and nervous system.