Maple syrup urine disease in Brazil: a panorama of the last two decades
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Jornal de Pediatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292 |
Resumo: | 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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Maple syrup urine disease in Brazil: a panorama of the last two decades Maple syrup urine diseaseMSUDInborn errors of metabolismDiagnosis 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. Sociedade Brasileira de Pediatria2015-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292Jornal de Pediatria v.91 n.3 2015reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2014.08.010info:eu-repo/semantics/openAccessHerber,SilvaniSchwartz,Ida Vanessa D.Nalin,TatiéleNetto,Cristina Brinkmann OliveiraCamelo Junior,José SimonSantos,Mara LúciaRibeiro,Erlane MarquesSchüler-Faccini,LaviniaSouza,Carolina Fischinger Moura deeng2015-07-16T00:00:00Zoai:scielo:S0021-75572015000300292Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2015-07-16T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false |
dc.title.none.fl_str_mv |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
title |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
spellingShingle |
Maple syrup urine disease in Brazil: a panorama of the last two decades Herber,Silvani Maple syrup urine disease MSUD Inborn errors of metabolism Diagnosis |
title_short |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
title_full |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
title_fullStr |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
title_full_unstemmed |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
title_sort |
Maple syrup urine disease in Brazil: a panorama of the last two decades |
author |
Herber,Silvani |
author_facet |
Herber,Silvani Schwartz,Ida Vanessa D. Nalin,Tatiéle Netto,Cristina Brinkmann Oliveira Camelo Junior,José Simon Santos,Mara Lúcia Ribeiro,Erlane Marques Schüler-Faccini,Lavinia Souza,Carolina Fischinger Moura de |
author_role |
author |
author2 |
Schwartz,Ida Vanessa D. Nalin,Tatiéle Netto,Cristina Brinkmann Oliveira Camelo Junior,José Simon Santos,Mara Lúcia Ribeiro,Erlane Marques Schüler-Faccini,Lavinia Souza,Carolina Fischinger Moura de |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Herber,Silvani Schwartz,Ida Vanessa D. Nalin,Tatiéle Netto,Cristina Brinkmann Oliveira Camelo Junior,José Simon Santos,Mara Lúcia Ribeiro,Erlane Marques Schüler-Faccini,Lavinia Souza,Carolina Fischinger Moura de |
dc.subject.por.fl_str_mv |
Maple syrup urine disease MSUD Inborn errors of metabolism Diagnosis |
topic |
Maple syrup urine disease MSUD Inborn errors of metabolism Diagnosis |
description |
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. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.jped.2014.08.010 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
dc.source.none.fl_str_mv |
Jornal de Pediatria v.91 n.3 2015 reponame:Jornal de Pediatria (Online) instname:Sociedade Brasileira de Pediatria (SBP) instacron:SBPE |
instname_str |
Sociedade Brasileira de Pediatria (SBP) |
instacron_str |
SBPE |
institution |
SBPE |
reponame_str |
Jornal de Pediatria (Online) |
collection |
Jornal de Pediatria (Online) |
repository.name.fl_str_mv |
Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP) |
repository.mail.fl_str_mv |
||jped@jped.com.br |
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1752122320363716608 |