Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.
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.
Choi
Jin-Ho
JH
Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University, Daejeon, Korea.
Cho
Young Mi
YM
Suh
Kwang-Sun
KS
Yoon
Hye-Ran
HR
Kim
Gu-Hwan
GH
Kim
Sung-Su
SS
Ko
Jung Min
JM
Lee
Joo Hoon
JH
Park
Young Seo
YS
Yoo
Han-Wook
HW
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003404:Creatinine / Q000097:blood / Q000652:urine; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000097:blood / Q000208:ethnology / Q000628:therapy*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007723:Korea; D008297:Male; D008833:Microcirculation; D008875:Middle Aged; D014281:Trihexosylceramides / Q000097:blood; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D003404:Creatinine; D000519:alpha-Galactosidase