부산대학교 도서관

Fabry disease (FD) is a rare genetic disorder that affects various organs and systems in the body. The disease is caused by a deficiency in the lysosomal enzyme α-galactosidase A (AGAL), which leads to the accumulation of globotriaosylceramide (Gb3) within lysosomes. This accumulation can cause damage to cells and organ systems, leading to a wide range of symptoms and complications. FD is a heterogeneous disorder, with a wide range of clinical phenotypes, ranging from the classic form, which is severe and associated with early onset, to milder non-classical forms, which are often limited to one organ and manifest later in life. We describe the case of a 23-year-old FD patient who was admitted as an emergency transfer due to newly discovered severe aortic regurgitation and suspected aortic valve endocarditis with vegetations of high embolic potential. Three years ago, the patient underwent a living donor kidney transplantation—the kidney graft lost its function 1 year after transplantation, and a chronic hemodialysis program was reinstituted.