Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Jornal Brasileiro de Pneumologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054 |
Resumo: | ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, −4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis. |
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Jornal Brasileiro de Pneumologia (Online) |
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Respiratory manifestations in late-onset Pompe disease: a case series conducted in BrazilGlycogen storage disease type IIRespiratory function testsRespiratory muscles/pathologyABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, −4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.Sociedade Brasileira de Pneumologia e Tisiologia2017-02-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054Jornal Brasileiro de Pneumologia v.43 n.1 2017reponame:Jornal Brasileiro de Pneumologia (Online)instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)instacron:SBPT10.1590/s1806-37562015000000343info:eu-repo/semantics/openAccessSixel,Bruna de SouzaSilva,Luanda Dias daCavalcanti,Nicolette CelaniPenque,Glória Maria Cardoso de AndradeLisboa,SandraHorovitz,Dafne Dain GandelmanLlerena Jr,Juan Clintoneng2017-08-16T00:00:00Zoai:scielo:S1806-37132017000100054Revistahttp://www.jornaldepneumologia.com.br/default.aspONGhttps://old.scielo.br/oai/scielo-oai.php||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br1806-37561806-3713opendoar:2017-08-16T00:00Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)false |
dc.title.none.fl_str_mv |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
title |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
spellingShingle |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil Sixel,Bruna de Souza Glycogen storage disease type II Respiratory function tests Respiratory muscles/pathology |
title_short |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
title_full |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
title_fullStr |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
title_full_unstemmed |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
title_sort |
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil |
author |
Sixel,Bruna de Souza |
author_facet |
Sixel,Bruna de Souza Silva,Luanda Dias da Cavalcanti,Nicolette Celani Penque,Glória Maria Cardoso de Andrade Lisboa,Sandra Horovitz,Dafne Dain Gandelman Llerena Jr,Juan Clinton |
author_role |
author |
author2 |
Silva,Luanda Dias da Cavalcanti,Nicolette Celani Penque,Glória Maria Cardoso de Andrade Lisboa,Sandra Horovitz,Dafne Dain Gandelman Llerena Jr,Juan Clinton |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Sixel,Bruna de Souza Silva,Luanda Dias da Cavalcanti,Nicolette Celani Penque,Glória Maria Cardoso de Andrade Lisboa,Sandra Horovitz,Dafne Dain Gandelman Llerena Jr,Juan Clinton |
dc.subject.por.fl_str_mv |
Glycogen storage disease type II Respiratory function tests Respiratory muscles/pathology |
topic |
Glycogen storage disease type II Respiratory function tests Respiratory muscles/pathology |
description |
ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, −4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-02-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/s1806-37562015000000343 |
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 Pneumologia e Tisiologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pneumologia e Tisiologia |
dc.source.none.fl_str_mv |
Jornal Brasileiro de Pneumologia v.43 n.1 2017 reponame:Jornal Brasileiro de Pneumologia (Online) instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT) instacron:SBPT |
instname_str |
Sociedade Brasileira de Pneumologia e Tisiologia (SBPT) |
instacron_str |
SBPT |
institution |
SBPT |
reponame_str |
Jornal Brasileiro de Pneumologia (Online) |
collection |
Jornal Brasileiro de Pneumologia (Online) |
repository.name.fl_str_mv |
Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT) |
repository.mail.fl_str_mv |
||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br |
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1750318346780278784 |