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Chinese Journal of Kidney Disease Investigation(Electronic Edition) ›› 2012, Vol. 01 ›› Issue (01): 37-40. doi: 10.3877/cma.j.issn.2095-3216.2012.01.009

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Update on diagnosis and treatment of Fabry disease

Nan CHEN1,()   

  1. 1.Department of Nephrology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Received:2012-06-01 Online:2012-10-18 Published:2024-12-06
  • Contact: Nan CHEN

Abstract:

As an X-linked lysosomal storage disease, Fabry disease results from mutations in the GLA gene that encodes the lysosomal enzyme a-galactosidase A. A functionally relevant reduction of the enzyme activity results in the accumulation of glycosphingolipid, predominantly globotriaosylceramide(Gb3), within multiple tissues, which causes systemic manifestations. In order to improve the understanding of Fabry disease, here we systematically review its manifestations, diagnostic system and treatment including enzyme replacement therapy..

Key words: Fabry disease, Biological markers, Enzyme replacement therapy

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