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High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
Imasawa, Toshiyuki; Murayama, Kei; Sawada, Takaaki; Hirose, Masanori; Takayanagi, Masaki; Nakamura, Kimitoshi.
Afiliación
  • Imasawa T; Department of Nephrology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba, Chiba, 206-8712, Japan. imasawa@nifty.com.
  • Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
  • Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, , 860-8556, Japan.
  • Hirose M; Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.
  • Takayanagi M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
  • Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, , 860-8556, Japan.
Clin Exp Nephrol ; 27(3): 288-294, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36574104
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Exp Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón
Texto completo
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Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Exp Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón