Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease.
10.3346/jkms.2008.23.2.243
- Author:
Jin Ho CHOI
1
;
Young Mi CHO
;
Kwang Sun SUH
;
Hye Ran YOON
;
Gu Hwan KIM
;
Sung Su KIM
;
Jung Min KO
;
Joo Hoon LEE
;
Young Seo PARK
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University, Daejeon, Korea.
- Publication Type:Original Article
- Keywords:
alpha-galactosidase A;
Enzyme Replacement Therapy;
Fabry Disease;
Globotriaosylceramide;
Lysosomal Storage Diseases
- MeSH:
Adolescent;
Adult;
Biopsy;
Creatinine/blood/urine;
Enzymes/*therapeutic use;
Fabry Disease/blood/ethnology/*therapy;
Female;
*Heterozygote;
Humans;
Korea;
Male;
Microcirculation;
Middle Aged;
Trihexosylceramides/blood;
alpha-Galactosidase/*therapeutic use
- From:Journal of Korean Medical Science
2008;23(2):243-250
- CountryRepublic of Korea
- Language:English
-
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.
