Retrospective Analysis of the Clinical Manifestations and Survival of Korean Patients With Mucopolysaccharidosis Type II: Emphasis on the Cardiovascular Complication and Mortality Cases
- Authors
- Sohn, YB[Sohn, Young Bae]; Choi, EW[Choi, Eun Wha]; Kim, SJ[Kim, Su Jin]; Park, SW[Park, Sung Won]; Kim, SH[Kim, Se-Hwa]; Cho, SY[Cho, Sung-Yoon]; Jeong, SI[Jeong, Soo In]; Huh, J[Huh, June]; Kang, IS[Kang, I-Seok]; Lee, HJ[Lee, Heung Jae]; Paik, KH[Paik, Kyung-Hoon]; Jin, DK[Jin, Dong-Kyu]
- Issue Date
- Jan-2012
- Publisher
- WILEY-BLACKWELL
- Keywords
- Hunter syndrome; mucopolysaccharidosis II; hyperte
- Citation
- AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.158A, no.1, pp.90 - 96
- Indexed
- SCIE
SCOPUS
- Journal Title
- AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Volume
- 158A
- Number
- 1
- Start Page
- 90
- End Page
- 96
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/66704
- DOI
- 10.1002/ajmg.a.34371
- ISSN
- 1552-4825
- Abstract
- Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare, X- linked disorder of glycosaminoglycan (GAG) catabolism caused by a deficiency in the activity of the lysosomal enzyme, iduronate- 2- sulfatase (I2S). In this study, the medical records of 75 Korean patients with Hunter syndrome (74 males, 1 female) were retrospectively reviewed to investigate the frequency of organ involvement and survival at a single center. The three most common symptoms of organ involvement were hepatosplenomegaly (99%), facial dysmorphism (97%), and frequent otitis media (91%). Cardiovascular involvement was also common including valvular abnormalities (89%), left ventricular hypertrophy (68%), and hypertension (30%). The 19 patients who died had a median age of 16.8 years at the time of death. Four of them died within 1 year of the start of enzyme replacement therapy; autopsy showed myocardial infarction with severe coronary artery disease in one patient. Two other patients died due to pneumonia and sleep apnea. In one case, the cause of death was not investigated. The high incidence of hypertension, and the presence of valvular heart disease indicates that close cardiac monitoring is mandatory in all patients with Hunter syndrome, especially relatively older patients even if they are being treated with enzyme replacement therapy. (C) 2011 Wiley Periodicals, Inc.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
![qrcode](https://api.qrserver.com/v1/create-qr-code/?size=55x55&data=https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/66704)
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.