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Type: Artigo de periódico
Title: Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
Author: VIEIRA, Taiane
MUNOZ, Veronica
PINTO, Louise
BOY, Raquel
FERRAZ, Victor
PAULA, Ana de
KIM, Chong
ACOSTA, Angelina
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 III: 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 sings/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS IV: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contracures (for MPS II), and typically 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 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. (C) 2008 Wiley-Liss, Inc.
Subject: mucopolysaccharidoses
lysosomal storage diseases
inborn errors of metabolism
natural history
Country: Estados Unidos
Citation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.146A, n.13, p.1741-1747, 2008
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.32320
Date Issue: 2008
Appears in Collections:FCM - Artigos e Outros Documentos

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