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Maple syrup urine disease in Brazil: a panorama of the last two decades.
Herber, Silvani; Schwartz, Ida Vanessa D; Nalin, Tatiéle; Oliveira Netto, Cristina Brinkmann; Camelo Junior, José Simon; Santos, Mara Lúcia; Ribeiro, Erlane Marques; Schüler-Faccini, Lavinia; Souza, Carolina Fischinger Moura de.
Afiliação
  • Herber S; Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
  • Schwartz IV; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Bra
  • Nalin T; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.
  • Oliveira Netto CB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
  • Camelo Junior JS; Brazilian MSUD Network, Porto Alegre, RS, Brazil; Department of Pediatrics, School of Medicine of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
  • Santos ML; Brazilian MSUD Network, Porto Alegre, RS, Brazil; Hospital Pequeno Príncipe, Curitiba, PR, Brazil.
  • Ribeiro EM; Brazilian MSUD Network, Porto Alegre, RS, Brazil; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil.
  • Schüler-Faccini L; Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federa
  • Souza CF; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.
J Pediatr (Rio J) ; 91(3): 292-8, 2015.
Article em En | MEDLINE | ID: mdl-25512172
OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p=0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Diagnóstico Tardio / Doença da Urina de Xarope de Bordo Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Pediatr (Rio J) Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Diagnóstico Tardio / Doença da Urina de Xarope de Bordo Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Pediatr (Rio J) Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil