BACKGROUND: Fabry disease (FD) is a rare disease and one of the causes of progressive renal dysfunction. It results from an X-linked deficiency of alpha-galactosidase A activity. It has been reported that its prevalence is much higher in hemodialysis patients than in the general population. However, its prevalence in Japanese hemodialysis patients and cardiovascular manifestations remain unclear. METHODS: We screened the alpha-galactosidase A activity of 1,024 Japanese hemodialysis patients using a dried blood spot test. Patients with a low alpha-galactosidase A activity were assessed clinically, and a genetic study of the alpha-galactosidase A gene was performed for these patients. Furthermore, patients with FD underwent detailed cardiovascular examination. RESULTS: Forty-six patients had low alpha-galactosidase A activity, and 1 man and 2 women had alpha-galactosidase A mutations (0.29%). All of these patients had a previously identified mutation (E66Q). The result of detailed cardiovascular examination showed that 2 patients had significantly impaired coronary flow reserve, reduced myocardial contraction and relaxation tissue Doppler velocities, and left ventricular hypertrophy. CONCLUSIONS: Measurement of the alpha-galactosidase A activity and the results of a genetic analysis indicated that the prevalence of FD in our hemodialysis patients was 0.29% (0.16% in men and 0.5% in women). Furthermore, comprehensive examination detected cardiovascular abnormalities in Japanese hemodialysis patients with FD. Copyright 2009 S. Karger AG, Basel.
BACKGROUND:Fabry disease (FD) is a rare disease and one of the causes of progressive renal dysfunction. It results from an X-linked deficiency of alpha-galactosidase A activity. It has been reported that its prevalence is much higher in hemodialysis patients than in the general population. However, its prevalence in Japanese hemodialysis patients and cardiovascular manifestations remain unclear. METHODS: We screened the alpha-galactosidase A activity of 1,024 Japanese hemodialysis patients using a dried blood spot test. Patients with a low alpha-galactosidase A activity were assessed clinically, and a genetic study of the alpha-galactosidase A gene was performed for these patients. Furthermore, patients with FD underwent detailed cardiovascular examination. RESULTS: Forty-six patients had low alpha-galactosidase A activity, and 1 man and 2 women had alpha-galactosidase A mutations (0.29%). All of these patients had a previously identified mutation (E66Q). The result of detailed cardiovascular examination showed that 2 patients had significantly impaired coronary flow reserve, reduced myocardial contraction and relaxation tissue Doppler velocities, and left ventricular hypertrophy. CONCLUSIONS: Measurement of the alpha-galactosidase A activity and the results of a genetic analysis indicated that the prevalence of FD in our hemodialysis patients was 0.29% (0.16% in men and 0.5% in women). Furthermore, comprehensive examination detected cardiovascular abnormalities in Japanese hemodialysis patients with FD. Copyright 2009 S. Karger AG, Basel.