Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.
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.
Division of Nephrology and Kidney Center, Kobe University School of Medicine, Chuo-ku, Kobe, Japan.
Hideki
H
Fujii
Keiji
K
Kono
Shunsuke
S
Goto
Tetsuari
T
Onishi
Hiroya
H
Kawai
Ken-ichi
K
Hirata
Kiyoko
K
Hattori
Kimitoshi
K
Nakamura
Fumio
F
Endo
Masafumi
M
Fukagawa
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000706:statistics & numerical data*; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics; D015150:Echocardiography, Doppler; D004789:Enzyme Activation / Q000502:physiology; D000795:Fabry Disease / Q000208:ethnology* / Q000235:genetics; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015995:Prevalence; D006435:Renal Dialysis / Q000706:statistics & numerical data*; D012307:Risk Factors; D020521:Stroke / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism
D000519:alpha-Galactosidase