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Clin Exp Nephrol. 2016 Apr;20(2):284-93. doi: 10.1007/s10157-015-1146-7. Epub 2015 Jul 22.

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

Author information

1
Division of Nephrology, Department of Medicine, Jichi Medical University, Tochigi, Japan.
2
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.
3
Department of Medicine, Koga Red Cross Hospital, Ibaraki, Japan.
4
Tokyo Health Service Association, Tokyo, Japan.
5
Department of Blood Purification, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.
6
Yokohama Dai-ichi Hospital, Kanagawa, Japan.
7
Department of Nephrology, Osaka City University Graduate School of Medicine, Osaka, Japan.
8
Department of Pediatric Nephrology, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.
9
Yaizu City Hospital, Shizuoka, Japan.
10
Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
11
Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
12
Department of Pediatrics, Institute for DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan.
13
Health Sciences University of Hokkaido, Hokkaido, Japan.
14
Department of Genetics and Genome Science, The Jikei University School of Medicine, Tokyo, Japan.

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.

KEYWORDS:

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

PMID:
26197777
DOI:
10.1007/s10157-015-1146-7
[Indexed for MEDLINE]

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