title: Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Nephrology, Department of Medicine, Jichi Medical University, Tochigi, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Saito
authors.affiliation: Division of Nephrology, Department of Medicine, Japan Community Health Care Organization Utsunomiya Hospital, Minamitakasago-cho 11-17, Tochigi, 321-0143, Japan. eishun@jichi.ac.jp.
authors.forename: Eiji
authors.initials: E
authors.lastname: Kusano
authors.affiliation: Division of Nephrology, Department of Medicine, Jichi Medical University, Tochigi, Japan.
authors.forename: Tetsu
authors.initials: T
authors.lastname: Akimoto
authors.affiliation: Department of Medicine, Koga Red Cross Hospital, Ibaraki, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Asano
authors.affiliation: Tokyo Health Service Association, Tokyo, Japan.
authors.forename: Teruo
authors.initials: T
authors.lastname: Kitagawa
authors.affiliation: Tokyo Health Service Association, Tokyo, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Suzuki
authors.affiliation: Tokyo Health Service Association, Tokyo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Ishige
authors.affiliation: Department of Blood Purification, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Akiba
authors.affiliation: Yokohama Dai-ichi Hospital, Kanagawa, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Saito
authors.affiliation: Department of Nephrology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Ishimura
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.
authors.forename: Motoshi
authors.initials: M
authors.lastname: Hattori
authors.affiliation: Yaizu City Hospital, Shizuoka, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hishida
authors.affiliation: Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Chu
authors.initials: C
authors.lastname: Guili
authors.affiliation: Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Maruyama
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Masahisa
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Institute for DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Touya
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Health Sciences University of Hokkaido, Hokkaido, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Matsuda
authors.affiliation: Department of Genetics and Genome Science, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D000795:Fabry Disease / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000209:etiology*; D008403:Mass Screening; D008875:Middle Aged; D055815:Young Adult
keywords: Dialysis patient; E66Q variation; Fabry disease; Screening; X-linked recessive inheritance; Α-galactosidase activity