Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil
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...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pneumologia e Tisiologia
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| Series: | Jornal Brasileiro de Pneumologia |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054&lng=en&tlng=en |
| _version_ | 1828768009408217088 |
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| author | Bruna de Souza Sixel Luanda Dias da Silva Nicolette Celani Cavalcanti Glória Maria Cardoso de Andrade Penque Sandra Lisboa Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr |
| author_facet | Bruna de Souza Sixel Luanda Dias da Silva Nicolette Celani Cavalcanti Glória Maria Cardoso de Andrade Penque Sandra Lisboa Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr |
| author_sort | Bruna de Souza Sixel |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T07:37:52Z |
| format | Article |
| id | doaj.art-e1e57cff3e06466f9125bb6c95ff2537 |
| institution | Directory Open Access Journal |
| issn | 1806-3756 |
| language | English |
| last_indexed | 2024-12-11T07:37:52Z |
| publisher | Sociedade Brasileira de Pneumologia e Tisiologia |
| record_format | Article |
| series | Jornal Brasileiro de Pneumologia |
| spelling | doaj.art-e1e57cff3e06466f9125bb6c95ff25372022-12-22T01:15:40ZengSociedade Brasileira de Pneumologia e TisiologiaJornal Brasileiro de Pneumologia1806-3756431545910.1590/s1806-37562015000000343S1806-37132017000100054Respiratory manifestations in late-onset Pompe disease: a case series conducted in BrazilBruna de Souza SixelLuanda Dias da SilvaNicolette Celani CavalcantiGlória Maria Cardoso de Andrade PenqueSandra LisboaDafne Dain Gandelman HorovitzJuan Clinton Llerena JrABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054&lng=en&tlng=enDoença de depósito de glicogênio tipo IITestes de função respiratóriaMúsculos respiratórios/patologia |
| spellingShingle | Bruna de Souza Sixel Luanda Dias da Silva Nicolette Celani Cavalcanti Glória Maria Cardoso de Andrade Penque Sandra Lisboa Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil Jornal Brasileiro de Pneumologia Doença de depósito de glicogênio tipo II Testes de função respiratória Músculos respiratórios/patologia |
| title | 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_short | 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 |
| topic | Doença de depósito de glicogênio tipo II Testes de função respiratória Músculos respiratórios/patologia |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132017000100054&lng=en&tlng=en |
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