Fabry or not Fabry--a question of ascertainment.

摘要

Fabry disease, an X-linked sphingolipidosis, is the most common lysosomal storage disease in Norway. Affected individuals may be offered intravenous enzyme replacement therapy, every second week at a cost of about epsilon200 000 per year for an average adult. To prevent organ damage, early treatment is probably the best. Accordingly, Fabry disease screening of patients with renal failure, cardiomyopathy, stroke and small-fiber neuropathy has been advocated. If Fabry disease is detected, the family can be offered diagnostic follow-up and treatment of mutation carriers.Recently, the diagnosis of Fabry disease in both transplanted kidneys from a 16-year-old male traffic victim was published. Kidney graft biopsy samples at the time of transplantation and at 3 and 12 years later showed large and constant amounts of Fabry-specific lipid deposits, mainly in the podocytes. Furthermore, the alpha-galactosi-dase A activity in a donor plasma sample at the time of transplantation was 0.3 nkat/1 (normal range 2.3-9.9), that is, the same level as in classical Fabry disease males.