Background. Fabry disease is an X-linked disorder resulting from a deficiency of lysosomal α-galactosidase. Renal insufficiency is one of its most important manifestations and affects the prognosis of the disease. We clarified the incidence of Fabry disease in patients receiving maintenance dialysis. Methods. We measured plasma α-galactosidase activity in 722 patients (male 440, female 282) receiving maintenance dialysis. Clinical manifestations were assessed, and the patients were to be screened for mutations in the α-galactosidase gene. Results. Two male patients had low plasma α-galactosidase activity. One patient had a C-to-T transition at codon 357, resulting in substitution of the predictable termination for glutamine. The other patient died suddenly during hemodialysis, due to arrhythmia. We could not carry out further evaluation, but his daughter had moderate reduction of α-galactosidase activity in leukocytes. She was, likely, an asymptomatic heterozygote. Conclusions. Two male patients with Fabry disease were found among 440 male patients who were receiving maintenance dialysis. Fabry disease should be considered in the etiology of end-stage renal failure.

No abstract

This method is easy and sensitive for detecting target proteins, and is useful for clarification of the pathophysiologies of GM2 gangliosidoses.

No abstract

No abstract