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KMID : 0918520140140010037
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 1 p.37 ~ p.41
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Long-term Effectiveness of Enzyme Replacement Therapy in Fabry Disease
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Kim Ja-Hye
Cho Ja-Hyang
Choi Jin-Ho
Leel Beom-Hee
Yoo Han-Wook
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Abstract
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Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.
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KEYWORD
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Fabry disease, Aglasidase alfa, Agalsidase beta, Enzyme replacement therapy
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