Navegando por Palavras-chave "mucopolysaccharidoses"

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    Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
    (Blackwell Munksgaard, 2004-09-01) Azevedo, ACMM; Schwartz, IV; Kalakun, L.; Brustolin, S.; Burin, M. G.; Beheregaray, APC; Leistner, S.; Giugliani, C.; Rosa, M.; Barrios, P.; Marinho, D.; Esteves, P.; Valadares, E.; Boy, R.; Horovitz, D.; Mabe, P.; Silva, LCS da; Souza, ICN de; Ribeiro, M.; Martins, A. M.; Palhares, D.; Kim, C. A.; Giugliani, R.; Hosp Clin Porto Alegre; UFRGS; Universidade Federal de Minas Gerais (UFMG); Universidade do Estado do Rio de Janeiro (UERJ); Fiocruz MS; INTA; Fed Univ Para; Universidade Federal do Rio de Janeiro (UFRJ); Universidade Federal de São Paulo (UNIFESP); Fed Univ Mato Grosso do Sol; Universidade de São Paulo (USP)
    This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile of these patients. Twenty-eight south-American patients with MPS VI were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification of glycosaminoglycans (GAGs) in urine, and measurement of the activity of N-acetylgalactosamine-4-sulfatase (ARSB) in leukocytes. 92.9% of patients were Brazilian. Mean age at diagnosis and at evaluation was 48.4 months and 97.1 months, respectively. 88% of patients had onset of symptomatology before the age of 36 months. Consanguinity was reported by 27% of the families. Mean weight and height at birth were 3.481 kg and 51.3 cm, respectively. the most frequently reported clinical manifestations were short stature, corneal clouding, coarse facial features, joint contractures, and claw hands. All patients presented with echocardiogram changes as well as corneal clouding. Mean ARSB activity in leukocytes was 5.4 nmoles/h/mg protein (reference values: 72-174), and urinary excretion of GAGs was on average 7.9 times higher than normal. the number of clinical manifestations did not show a significant correlation with the levels of urinary GAGs nor with the ARSB activity. Also, no significant correlation was found between the levels of urinary GAGs and the ARSB activity. It was concluded that MPS VI has high morbidity and that, when compared with data published in the literature, patients in our study were diagnosed later and presented with a higher frequency of cardiological findings.
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    Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome
    (Lippincott Williams & Wilkins, 2001-04-01) Casanova, FHC; Adan, CBD; Allemann, N.; Freitas, D. de; Universidade Federal de São Paulo (UNIFESP)
    Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradation and storage of dermatan sulfate. We report a case of mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) with corneal involvement and introduce ultrasound biomicroscopy (UBM) as an examination with which to follow disease progression in relation to deposition in cornea, angle, and iris, Methods. We describe a Ii-year-old boy with a clinical and laboratorial diagnosis of MPS VI who developed increasing bilateral corneal opacification and decreased visual acuity. He underwent two seriate UBM (50-MHz transducer) evaluations. Results. UBM examination showed diffuse and homogeneous stromal hyper-reflective deposit in both eyes and an increase in peripheral corneal thickness throughout time. Conclusion. High-frequency ultrasound documentation of corneal deposit and anterior segment involvement in a patient with Maroteaux-Lamy syndrome is unique, and follow-up revealed thickening of the corneal periphery, which may be related to the progression of the disease (continuous mucopolysaccharide deposits in corneal stroma). UBM was used to locate and document the deposit, as well as to accompany the deposit's evolution, characterizing corneal changes and angle structure involvement.