| [ Summary ] |
Fabry disease is a lysosomal storage disorder caused by a defect in the gene encoding lysosomal α-galactosidase A. This abnormality causes globotriaosylceramide (Gb3) to accumulate within various tissues, leading to organ dysfunction. Fabry disease is a well known hereditary disease. However, it is often difficult to diagnose in clinical settings because its clinical manifestations are varied. The pathophysiolosical mechanisms of this condition have not been fully elucidated. There are many crucial issues associated with this disease. Although Fabry disease is considered to be rare, there are a relatively large number of Fabry disease patients among those with chronic kidney disease, as compared to the general population. Therefore, it is very important, especially for nephrologists, to recognize the features and way of management of Fabry disease. |