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

Toshiyuki Imasawa1, Kei Murayama2, Takaaki Sawada3

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

Clinical and Experimental Nephrology
|December 27, 2022
PubMed

Insights

High-risk screening identified a 0.03% prevalence of Fabry disease in Chiba Prefecture dialysis patients. This study also revealed that hemodialysis significantly impacts alpha-galactosidase A activity levels.

Area of Science:

  • Nephrology
  • Medical Genetics
  • Biochemistry

Background:

  • High-risk screening for Fabry disease in dialysis patients is crucial for early diagnosis.
  • Such screening had not been previously conducted in Chiba Prefecture, Japan.
  • This study addresses the need to understand Fabry disease prevalence in this population.

Purpose of the Study:

  • To estimate the prevalence of Fabry disease among hemodialysis patients in Chiba Prefecture.
  • To implement high-risk screening using alpha-galactosidase A (αGal A) activity measurement.
  • To investigate the effect of hemodialysis on αGal A activity.

Main Methods:

  • Recruited patients undergoing maintenance hemodialysis from 25 facilities in Chiba Prefecture.
  • Employed a two-stage screening process using dried blood spot (DBS) tests for αGal A activity.
  • Conducted genetic testing for confirmed cases and analyzed αGal A activity pre- and post-dialysis.

Main Results:

  • Screening included 2924 patients; 94 showed low αGal A activity in the first screen, and 3 in the second.
  • Genetic testing identified one male patient with the GLA gene mutation c.1078G>A, yielding a prevalence of 0.03%.
  • A statistically significant decrease in αGal A activity was observed post-dialysis compared to pre-dialysis (p < 0.0001).

Conclusions:

  • The estimated prevalence of Fabry disease in hemodialysis patients in Chiba Prefecture is 0.03%.
  • This study provides the first evidence that hemodialysis affects αGal A activity.
  • Highlights the importance of high-risk screening in dialysis populations for Fabry disease.
Abstract

Keywords:
Alpha galactosidase ADried blood spot testingFabry diseaseHemodialysisHigh-risk screening

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