Disclosure Statement: The authors have nothing to disclose.
Article first published online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 90–96, January 2012
How to Cite
Sohn, Y. B., Choi, E. W., Kim, S. J., Park, S. W., Kim, S.-H., Cho, S.-Y., Jeong, S. I., Huh, J., Kang, I.-S., Lee, H. J., Paik, K.-H. and Jin, D.-K. (2012), Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases. Am. J. Med. Genet., 158A: 90–96. doi: 10.1002/ajmg.a.34371
Young Bae Sohn and Eun Wha Choi contributed equally to this work.
How to Cite this Article: Sohn YB, Choi EW, Kim SJ, Park SW, Kim S-H, Cho S-Y, Jeong SI, Huh J, Kang I-S, Lee HJ, Paik K-H, Jin D-K. 2012. Retrospective Analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases. Am J Med Genet Part A 158A:90–96.
- Issue published online: 19 DEC 2011
- Article first published online: 21 NOV 2011
- Manuscript Accepted: 17 OCT 2011
- Manuscript Received: 8 SEP 2010
- Korea Healthcare technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea. Grant Number: A080588
- Samsung Biomedical Research Institute SBRI. Grant Numbers: C-A6-227-3, C-A9-240-2
- In-Sung Foundation for Medical Research
- Hunter syndrome;
- mucopolysaccharidosis II;
- cardiovascular complication
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. © 2011 Wiley Periodicals, Inc.