Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease

다국어 초록 (Multilingual Abstract)

Fabrazyme has been widely used for treatment of Fabry disease since its approval by the U.S. Food and Drug Administration in 2003. This study was undertaken to assess the short-term efficacy and safety of enzyme replacement therapy (ERT) for Fabry disease in Korea. Eight male patients and three female symptomatic carriers aged 13 to 48 yr were included. Fabrazyme was administered by intravenous infusion at a dose of 1 mg/kg every 2 weeks. Plasma and urine globotriaosylceramide (GL-3) levels, serum creatinine, creatinine clearance, and 24-hr urine protein levels were measured every 3 months. Kidney biopsies, ophthalmologic exams, and pure tone audiometry were performed before and 1 yr after ERT. Kidney function, including serum creatinine, creatinine clearance, and the 24-hr urine protein level, remained stable during ERT. Plasma and urine GL-3 levels were reduced within 3 to 6 months of ERT initiation. Microvascular endothelial deposits of GL-3 were decreased from renal biopsy specimens after 1 yr of treatment. The severity of sensorineural hearing loss and tinnitus did not improve after ERT. ERT is safe and effective in stabilizing renal function and clearing microvascular endothelial GL-3 from kidney biopsy specimen in Korean patients with Fabry disease.

참고문헌 (Reference)

1 Desnick RJ, "an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy" 138 : 338-346, 2003

2 Gupta S, "The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women" 84 : 261-268, 2005

3 Ries M, "The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents" 162 : 767-772, 2003

4 Desnick RJ, "The Metabolic and Molecular Bases of Inherited Disease" Mc- Graw-Hill 3733-3774, 2001

5 Brooks DA, "Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder" 9 : 450-453, 2003

6 Meikle PJ, "Prevalence of lysosomal storage disorders" 281 : 249-254, 1999

7 Ries M, "Pediatric Fabry disease" 115 : 344-355, 2005

8 Thadhani R, "Obrador GT. Patients with Fabry disease on dialysis in the United States" 61 : 249-255, 2002

9 Kornreich R, "Nucleotide sequence of the human alpha-galactosidase A gene" 17 : 3301-3302, 1989

10 Branton MH, "Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course" 81 : 122-138, 2002

11 Whitfield PD, "Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide" 28 : 21-33, 2005

12 Yoshitama T, "Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry s disease" 87 : 71-75, 2001

13 Wilcox WR, "Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care" 144 : 3-14, 2004

14 Wilcox WR, "International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease" 75 : 65-74, 2004

15 Eng CM, "International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human - galactosidase A replacement therapy in Fabry s disease" 345 : 9-16, 2001

16 Schiffmann R, "Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease" 365-370, 2000

17 Lee JK, "Identification of four novel mutations in five unrelated Korean families with Fabry disease" 58 : 228-233, 2000

18 Hajioff D, "Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy" 26 : 787-794, 2003

19 Kayganich KA, "Fast atom bombardment tandem mass spectrometric identification of diacyl, alkylacyl, and alk-1-enylacyl molecular species of glycerophosphoethanolamine in human polymorphonuclear leukocytes" 64 : 2965-2971, 1992

20 Kint JA, "Fabrys disease: alpha-galactosidase deficiency" 167 : 1268-1269, 1970

21 Peters FP, "Fabry s disease: a multidisciplinary disorder" 73 : 710-712, 1997

22 Desnick RJ, "Fabry disease in childhood" 144 : 20-26, 2004

23 Ries M, "Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease" 118 : 924-932, 2006

24 Mignani R, "Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study" 65 : 1381-1385, 2004

25 Schiffmann R, "Enzyme replacement therapy in Fabry disease: a randomized controlled trial" 285 : 2743-2749, 2001

26 Pisani A, "Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement" 46 : 120-127, 2005

27 Schiffmann R, "Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease" 28 : 703-710, 2003

28 Sheth KJ, "Early renal failure in Fabry s disease" 2 : 651-654, 1983

29 Whybra C, "Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes" 24 : 715-724, 2001

30 MacDermot KD, "Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males" 38 : 750-760, 2001

31 Nakao S, "An atypical variant of Fabry s disease in men with left ventricular hypertrophy" 333 : 288-293, 1995

32 Hajioff D, "Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey" 36 : 663-667, 2006

33 Blanch LC, "A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene" 8 : 38-43, 1996

34 Bligh EG, "A rapid method of total lipid extraction and purification" 911-917,

35 Eng CM, "A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies" 68 : 711-722, 2001