Prospective study of 11 Brazilian patients with mucopolysaccharidosis II
Autor: | Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani, Grupo de Estudos sobre MPS II |
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Rok vydání: | 2006 |
Předmět: |
medicine.medical_specialty
Time Factors Urinary system Physical examination Walking Overweight Statistics Nonparametric Disability Evaluation Internal medicine medicine Humans Prospective Studies Prospective cohort study Child Glycosaminoglycans Mucopolysaccharidosis II Ultrasonography Anamnesis Intelligence Tests medicine.diagnostic_test business.industry Hunter syndrome medicine.disease Surgery Child Preschool Pediatrics Perinatology and Child Health Disease Progression Medical genetics Audiometry medicine.symptom business Brazil |
Zdroj: | Jornal de pediatria. 82(4) |
ISSN: | 0021-7557 |
Popis: | OBJECTIVE To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clinicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration. RESULTS The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged. CONCLUSIONS In general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. Although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis II, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols. |
Databáze: | OpenAIRE |
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