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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Vieira, Taiane Schwartz, Ida Muñoz, Verónica Pinto, Louise Steiner, Carlos Ribeiro, Márcia Boy, Raquel Ferraz, Victor de Paula, Ana Kim, Chong Acosta, Angelina Giugliani, Roberto |
| Description | Country affiliation: Brazil Author Affiliation: Vieira T ( Medical Genetics Service, HCPA, Porto Alegre, Brazil. tavieira@hcpa.ufrgs.br) |
| Abstract | Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient's parents or guardians with subsequent review of patient's medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of signs/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS VI: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. Several health professionals were involved in patient's care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and the establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 13 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-07-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Mucopolysaccharidoses Diagnosis Adolescent Age Factors Child Child, Preschool Cohort Studies Consanguinity Developmental Disabilities Genetics Female Humans Infant Infant, Newborn Male Classification Siblings Questionnaires Journal Article |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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