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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
- Source :
- Orphanet Journal of Rare Diseases
- Publisher :
- Springer Nature
-
Abstract
- Background Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. Methods A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. Results The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p
- Subjects :
- Adult
Male
0301 basic medicine
medicine.medical_specialty
Adolescent
Taiwan
Cause of death
Disease
030105 genetics & heredity
Young Adult
03 medical and health sciences
Life Expectancy
0302 clinical medicine
Internal medicine
Humans
Medicine
Genetics(clinical)
Pharmacology (medical)
Mortality
Mucopolysaccharidosis type II
Young adult
Child
Genetics (clinical)
Mucopolysaccharidosis II
Retrospective Studies
Medicine(all)
business.industry
Research
Incidence (epidemiology)
Hunter syndrome
General Medicine
medicine.disease
Respiratory failure
Female
Age of onset
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 11
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases
- Accession number :
- edsair.doi.dedup.....bd79d6958247ffb4244aa2bdf8c3b81a
- Full Text :
- https://doi.org/10.1186/s13023-016-0471-6