title: Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.
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.
authors: Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
authors: Young Bae
authors: YB
authors: Sohn
authors: Eun Wha
authors: EW
authors: Choi
authors: Su Jin
authors: SJ
authors: Kim
authors: Sung Won
authors: SW
authors: Park
authors: Se-Hwa
authors: SH
authors: Kim
authors: Sung-Yoon
authors: SY
authors: Cho
authors: Soo In
authors: SI
authors: Jeong
authors: June
authors: J
authors: Huh
authors: I-Seok
authors: IS
authors: Kang
authors: Heung Jae
authors: HJ
authors: Lee
authors: Kyung-Hoon
authors: KH
authors: Paik
authors: Dong-Kyu
authors: DK
authors: Jin
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003324:Coronary Artery Disease / Q000209:etiology* / Q000401:mortality* / Q000628:therapy; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D006973:Hypertension / Q000209:etiology / Q000401:mortality; D007223:Infant; D053208:Kaplan-Meier Estimate; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D035583:Rare Diseases / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D012189:Retrospective Studies
chemical_list: D006025:Glycosaminoglycans