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

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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.

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We would like to our sincere thank for their efforts of conducting J-FAST in various areas of JAPAN to the members of local committee listed below. In addition, we also express of our thanks to all the doctors and staff members of cooperative clinics for performing J-FAST. Dr Ichiei Narita, Niigata University Graduate School of Medical and Dental Sciences. Dr Kazutaka Kukita, Sapporo Hokuyu Hospital. Dr Yoshio Taguma, Sendai Shakaihoken Hospital. Dr Kaoru Tabei, Saitama Medical Center, Jichi Medical University. Dr Shigeko Hara, Toranomon Hospital. Dr Tadao Akizawa, Showa University School of Medicine. Dr Seiichi Matsuo, Nagoya University School of Medicine. Dr Yukio Yuzawa, Fujita Health University School of Medicine. Dr Yoshiharu Tsubakihara, Osaka General Medical Center. Dr Hirofumi Makino, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences. Dr Hitoshi Sugiyama, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences. Dr Noriaki Yorioka, Hiroshima Kidney Organization. Dr Takahito Nasu, Tokuyama Central Hospital. Dr Kumio Tomita, Graduate School of Faculty of Life Science, Kumamoto University. Dr Kunitoshi Iseki, University Hospital of the Ryukyu.

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Correspondence to Eiji Kusano.

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The authors have declared that no conflict of interest exists.

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Kidney Foundation, Japan.

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Saito, O., Kusano, E., Akimoto, T. et al. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol 20, 284–293 (2016).

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