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Abstract: TH-PO733

The Prevalence of Fabry Disease in Patients Undergoing Hemodialysis in the Northernmost Region in Japan

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Nakagawa, Naoki, Asahikawa Medical University, Asahikawa, Japan

Fabry disease, an X-linked, progressive and life-threatening genetic disease, is caused by abnormalities in the α-galactosidase A (α-Gal A) gene. Several studies in Japan reported 2-3% of males suffering from left ventricular hypertrophy were affected with Fabry disease, however, the prevalence of Fabry disease in patients undergoing hemodialysis is still unknown.


In this prospective, multicenter study, we screened 1,476 patients receiving dialysis from multicenter of the northernmost prefecture in Japan. Patients with a low α-Gal A activity were assessed using dried blood spots on filter paper, and a genetic study of the α-Gal A gene was performed for these patients.


A total of 1,476 patients (66% male, median age 67.0 years) underwent screening and 52 had low α-Gal A activity; of these, two males had α-Gal A mutations. A 64-year-old man had the genetic mutation of p.M187V in exon 4. Another 55-year-old man had the genetic mutation of c.908-928del21 in exon 7, which is a new mutation not described before in the literature, but potentially pathogenic. Both patients had severe left ventricular hypertrophy and had diagnosed as having chronic glomerulonephritis without renal biopsy. The prevalence of Fabry disease is 0.14% in patients undergoing hemodialysis in the northernmost region in Japan.


Dried blood spot screening was considered as a simple and effective method for detecting the underlying patients with Fabry disease. Clinicians should be aware of Fabry disease as a potential cause of hemodialysis, especially in hemodialysis patients with severe left ventricular hypertrophy without renal biopsy.