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High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan

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Abstract

Background

High-risk screening for Fabry disease in dialysis patients is an effective means for reducing the number of undiagnosed cases. However, such screening has not been conducted in Chiba Prefecture, Japan. Herein, we aimed to estimate the prevalence of Fabry disease among patients undergoing hemodialysis in Chiba Prefecture by high-risk screening using α-galactosidase A (αGal A) activity measurement, and examine the hemodialysis effect on αGal A activity.

Methods

Patients who underwent maintenance hemodialysis at 25 facilities in Chiba Prefecture were recruited. The αGal A activity was measured using the dried blood spot (DBS) test as the first screening. If the enzyme activity was lower than the cut-off, the second screening was performed with the same method before and after dialysis.

Results

Overall, 2924 patients (2036 men and 888 women) were included from which 94 cases (45 men and 48 women) showed decreased αGAL activity in the first screening and 3 (two men and one women) in the second screening. Genetic testing was performed in 3 patients, and the c.1078G > A mutation in GLA gene was detected in one male patient (0.03%). There has been a statistically significant decrease in αGal A activity of DBS at post-dialysis compared to that at pre-dialysis (20.5 ± 10.4 pmol/h/disk and 22.7 ± 11.5 pmol/h/disk, p < 0.0001).

Conclusion

The prevalence of Fabry disease among patients undergoing hemodialysis in Chiba Prefecture was estimated as 0.03%. This is the first time that dialysis has been shown to affect the αGal A activity.

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Acknowledgements

We would like to express our deepest gratitude to the staff of the medical institutions who helped in recruiting patients to participate in this study, and to the responsible doctors at those respective institutions (Supplemental Summary S1). We would like to thank Akiko Sawada, Mori Tachibana and Keiko Tanaka for their administrative support.

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Authors and Affiliations

  1. Department of Nephrology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba, Chiba, 206-8712, Japan

    Toshiyuki Imasawa

  2. Center for Medical Genetics, Department of Metabolism, Chiba Children’s Hospital, 579-1, Heta-cho, Midori-ku, Chiba, 266-0007, Japan

    Kei Murayama & Masaki Takayanagi

  3. Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, , 860-8556, Japan

    Takaaki Sawada & Kimitoshi Nakamura

  4. Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan

    Masanori Hirose

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  1. Toshiyuki Imasawa
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  2. Kei Murayama
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  3. Takaaki Sawada
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  4. Masanori Hirose
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Corresponding author

Correspondence to Toshiyuki Imasawa.

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Research involving human participants and/or animals

This study was conducted in accordance with the Declaration of Helsinki and with the approval by the ethics committee and institutional review board of Chiba-Higashi National Hospital (No. R1-13) and each hospital participated in this study.

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Informed consent was obtained from all the individual participants included in the study.

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Imasawa, T., Murayama, K., Sawada, T. et al. High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan. Clin Exp Nephrol 27, 288–294 (2023). https://doi.org/10.1007/s10157-022-02295-w

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  • DOI: https://doi.org/10.1007/s10157-022-02295-w

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