• Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, and Han-Wook Yoo.
• Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine Asan Institute for Life Sciences Medical Genetics Center, Asan Medical Center Children's Hospital, Seoul Department of Pediatrics, Pusan National University Children's Hospital Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan Department of Pediatrics, Seoul National University Children's Hospital, Seoul Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul Hospital, Seoul Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun Department of Pediatrics, Chungnam National University Hospital, Daejeon Department of Cardiology, Bucheon Sejong Hospital, Bucheon Department of Cardiology, Kyung Hee University Hospital Department of Cardiology, Yonsei University Severance Hospital Department of Nephrology, Chung-Ang University Hospital Department of Cardiology, Eulji University Hospital, Seoul Department of Nephrology, Kyungpook National University Hospital, Daegu Division of Nephrology, Department of Internal Medicine, Dankook University Hospital, Dankook University, College of Medicine, Cheonan Department of Cardiology, Inje University Busan Paik Hospital, Busan, Republic of Korea.
• Medicine (Baltimore). 2017 Jul 1; 96 (29): e7387.

AbstractFabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ± 19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ± 3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.

30 keywords...

hide…