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

被引:0
作者
Osamu Saito
Eiji Kusano
Tetsu Akimoto
Yasushi Asano
Teruo Kitagawa
Ken Suzuki
Nobuyuki Ishige
Takashi Akiba
Akira Saito
Eiji Ishimura
Motoshi Hattori
Akira Hishida
Chu Guili
Hiroki Maruyama
Masahisa Kobayashi
Touya Ohashi
Ichiro Matsuda
Yoshikatsu Eto
机构
[1] Jichi Medical University,Division of Nephrology, Department of Medicine
[2] Japan Community Health Care Organization Utsunomiya Hospital,Division of Nephrology, Department of Medicine
[3] Koga Red Cross Hospital,Department of Medicine
[4] Tokyo Health Service Association,Department of Blood Purification
[5] Kidney Center,Department of Nephrology
[6] Tokyo Women’s Medical University,Department of Pediatric Nephrology
[7] Yokohama Dai-ichi Hospital,Department of Clinical Nephroscience
[8] Osaka City University Graduate School of Medicine,Department of Pediatrics
[9] Tokyo Women’s Medical University,Department of Pediatrics
[10] School of Medicine,Department of Genetics and Genome Science
[11] Yaizu City Hospital,undefined
[12] Niigata University Graduate School of Medical and Dental Sciences,undefined
[13] The Jikei University School of Medicine,undefined
[14] Institute for DNA Medicine,undefined
[15] The Jikei University School of Medicine,undefined
[16] Health Sciences University of Hokkaido,undefined
[17] The Jikei University School of Medicine,undefined
来源
Clinical and Experimental Nephrology | 2016年 / 20卷
关键词
Α-galactosidase activity; Fabry disease; Dialysis patient; Screening; X-linked recessive inheritance; E66Q variation;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:284 / 293
页数:9
相关论文
共 103 条
[1]  
Kint JA(1970)Fabry’s disease: alpha-galactosidase deficiency Science 167 1268-1269
[2]  
De Francesco PN(2013)Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide Mol Genet Metab 109 93-99
[3]  
Mucci JM(2001)Renal disease in Fabry patients J Inherit Metab Dis 24 71-74
[4]  
Ceci R(2009)Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol Dial Transpl 24 2102-2111
[5]  
Grünfeld JP(2010)Enzyme replacement therapy for Fabry’s disease Lancet 375 1523-51
[6]  
Lidove O(2000)Fabry disease in patients receiving maintenance dialysis Clin Exp Nephrol 4 49-1584
[7]  
Joly D(2002)Screening for Fabry disease in end-stage nephropathies J Inherit Metab Dis 25 113-807
[8]  
Barbey F(2003)Alpha-Galactosidase a deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease Nephrol Dial Transpl 18 1581-1329
[9]  
Schiffmann R(2003)Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype Kidney Int 64 801-287
[10]  
Warnock DG(2004)Results of a nationwide screening for Anderson-Fabry disease among dialysis patients J Am Soc Nephrol 15 1323-c38