Clinical and Experimental Nephrology

, Volume 20, Issue 2, pp 284–293 | Cite as

Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST)

  • Osamu Saito
  • Eiji Kusano
  • Tetsu Akimoto
  • Yasushi Asano
  • Teruo Kitagawa
  • Ken Suzuki
  • Nobuyuki Ishige
  • Takashi Akiba
  • Akira Saito
  • Eiji Ishimura
  • Motoshi Hattori
  • Akira Hishida
  • Chu Guili
  • Hiroki Maruyama
  • Masahisa Kobayashi
  • Touya Ohashi
  • Ichiro Matsuda
  • Yoshikatsu Eto
Original Article



In Fabry disease, progressive glycolipid accumulation leads to damage in kidney and other organs. This study was designed to determine the prevalence rate of Fabry disease in Japanese dialysis patients.


All dialysis patients agreeing to Japan Fabry disease screening study (J-FAST) with informed consent were selected except for Fabry disease. The screening was performed by a method of measuring plasma and/or leukocytes lysosomal α-galactosidase A protein level and α-galactosidase A activity. If positive, genetic analysis was carried out upon patient’s agreement.


J-FAST dealt with 8547 patients (male 5408, female 3139). At the tertiary examination, 26 out of 8547 patients were found to be positive. Six out of 26 patients could not accept genetic analysis because of death. Remaining 20 patients agreed with genetic analysis; then 2 patients (male 2, female 0) had a variation of the α-Gal gene and 11 patients showed E66Q variations. Therefore, the frequency of Fabry disease in J-FAST was 0.04 % (2/5408) in males and 0 % (0/3139) in females, and then 0.02 % (2/8547) in all patients. The presumptive clinical diagnoses of end-stage kidney disease (ESKD) were 10 chronic glomerulonephritis, 7 diabetic nephropathy, 3 unknown etiology, 3 nephrosclerosis, 1 gouty nephropathy, 1 autosomal dominant polycystic kidney disease and 1 renal tuberculosis among 26 tertiary positive patients. Two male Fabry patients were initially diagnosed as nephrosclerosis and chronic glomerulonephritis.


The prevalence rate of Fabry disease in J-FAST was 0.02 %. Moreover, Fabry disease could not be ruled out as the clinical diagnosis of ESKD.


Α-galactosidase activity Fabry disease Dialysis patient Screening X-linked recessive inheritance E66Q variation 


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Copyright information

© Japanese Society of Nephrology 2015

Authors and Affiliations

  • Osamu Saito
    • 1
  • Eiji Kusano
    • 2
  • Tetsu Akimoto
    • 1
  • Yasushi Asano
    • 3
  • Teruo Kitagawa
    • 4
  • Ken Suzuki
    • 4
  • Nobuyuki Ishige
    • 4
  • Takashi Akiba
    • 5
  • Akira Saito
    • 6
  • Eiji Ishimura
    • 7
  • Motoshi Hattori
    • 8
  • Akira Hishida
    • 9
  • Chu Guili
    • 10
  • Hiroki Maruyama
    • 10
  • Masahisa Kobayashi
    • 11
  • Touya Ohashi
    • 12
  • Ichiro Matsuda
    • 13
  • Yoshikatsu Eto
    • 14
  1. 1.Division of Nephrology, Department of MedicineJichi Medical UniversityTochigiJapan
  2. 2.Division of Nephrology, Department of MedicineJapan Community Health Care Organization Utsunomiya HospitalTochigiJapan
  3. 3.Department of MedicineKoga Red Cross HospitalIbarakiJapan
  4. 4.Tokyo Health Service AssociationTokyoJapan
  5. 5.Department of Blood PurificationKidney Center, Tokyo Women’s Medical UniversityTokyoJapan
  6. 6.Yokohama Dai-ichi HospitalKanagawaJapan
  7. 7.Department of NephrologyOsaka City University Graduate School of MedicineOsakaJapan
  8. 8.Department of Pediatric NephrologyTokyo Women’s Medical University, School of MedicineTokyoJapan
  9. 9.Yaizu City HospitalShizuokaJapan
  10. 10.Department of Clinical NephroscienceNiigata University Graduate School of Medical and Dental SciencesNiigataJapan
  11. 11.Department of PediatricsThe Jikei University School of MedicineTokyoJapan
  12. 12.Department of PediatricsInstitute for DNA Medicine, The Jikei University School of MedicineTokyoJapan
  13. 13.Health Sciences University of HokkaidoHokkaidoJapan
  14. 14.Department of Genetics and Genome ScienceThe Jikei University School of MedicineTokyoJapan

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