Caso Clínico/Clinical Case
Aspectos respiratórios da doença de Pompe: Relato de caso
Respiratory aspects of Pompe disease: Case report
Ewandro L.R. Moura1, Thiago A. Jabuonski1, Veronica M. Amado2,
Corresponding author
veronicaamado@uol.com.br
Correspondência: Veronica M Amado, SQS-315 Bl-A Ap-201; CEP: 70.384-010. Brasília –DF.
Correspondência: Veronica M Amado, SQS-315 Bl-A Ap-201; CEP: 70.384-010. Brasília –DF.
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Moura, Thiago A. Jabuonski, Veronica M. Amado" "autores" => array:3 [ 0 => array:3 [ "nombre" => "Ewandro L.R." "apellidos" => "Moura" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "af0005" ] ] ] 1 => array:3 [ "nombre" => "Thiago A." "apellidos" => "Jabuonski" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "af0005" ] ] ] 2 => array:4 [ "nombre" => "Veronica M." "apellidos" => "Amado" "email" => array:1 [ 0 => "veronicaamado@uol.com.br" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "af0010" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cr0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Alunos do curso de graduação em Medicina da Faculdade de Medicina, Universidade de Brasília, Brasília-DF" "etiqueta" => "1" "identificador" => "af0005" ] 1 => array:3 [ "entidad" => "Professor Adjunto do Departamento de Clínica Médica, Faculdade de Medicina, Universidade de Brasília – UnB, Brasília-DF" "etiqueta" => "2" "identificador" => "af0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cr0005" "etiqueta" => "*" "correspondencia" => "<span class="elsevierStyleBold">Correspondência:</span> Veronica M Amado, SQS-315 Bl-A Ap-201; CEP: 70.384-010. Brasília –DF." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Respiratory aspects of Pompe disease: Case report" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2007-04-24" "fechaAceptado" => "2007-09-12" "PalabrasClave" => array:2 [ "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec570311" "palabras" => array:5 [ 0 => "Doença de depósito de glicogénio tipo II" 1 => "doença de Pompe" 2 => "miopatia" 3 => "insuficiência respiratória" 4 => "ventilação mecânica" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key-words" "identificador" => "xpalclavsec570310" "palabras" => array:6 [ 0 => "Glycogen storage disease type II" 1 => "Pompe disease" 2 => "myopathy" 3 => "respiratory failure" 4 => "ventilation" 5 => "mechanical" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<span id="as0005" class="elsevierStyleSection elsevierViewall"><p id="sp0005" class="elsevierStyleSimplePara elsevierViewall">Relatamos o caso de doente feminina, 38 anos, com diagnóstico de doença de Pompe há oito anos. Há cinco anos vinha com queixas respiratórias, evoluindo com insuficiência respiratória crónica. Em uso de CPAP (<span class="elsevierStyleItalic">continuous positive airway pressure</span>) nocturno há um ano, apresentava agravamento clínico progressivo. Veio encaminhada ao Hospital Universitário de Brasília, com descompensação respiratória e <span class="elsevierStyleItalic">cor pulmonale</span>. Iniciou-se ventilação não invasiva com dois níveis de pressões (VNI) e realizou-se polissonografia, que demonstrou a necessidade do ajuste de frequência respiratória associada aos ajustes das pressões para adequação da ventilação durante o sono. Evoluiu com melhora importante após uso da VNI.</p><p id="sp0010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2008; XIV (1): 159-164</span></p></span>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="as0010" class="elsevierStyleSection elsevierViewall"><p id="sp0015" class="elsevierStyleSimplePara elsevierViewall">We report the case of a 38 years-old female patient with Pompe disease, diagnosed eight years ago. Respiratory complaints appeared five years ago progressing to chronic respiratory failure. Nocturnal CPAP (continuous positive airway pressure) was prescribed last year, presenting progressive clinical worsening. She was referred to Hospital Universitário de Brasília, on account of respiratory failure and cor pulmonale. Thus, she began non-invasive ventilation (NIV) with bi-level positive airways pressure, and a polysomnography showed the need of spontaneous/timed mode associated with adjustments in breathing pressures to improve ventilation during sleep. There was significant clinical improvement after NIV support was established.</p><p id="sp0020" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2008; XIV (1): 159-164</span></p></span>" ] ] "lecturaRecomendada" => array:1 [ 0 => array:3 [ "vista" => "all" "titulo" => "<span class="elsevierStyleSectionTitle" id="st0025">Bibliografia</span>" "seccion" => array:1 [ 0 => array:2 [ "vista" => "all" "bibliografiaReferencia" => array:11 [ 0 => array:3 [ "identificador" => "bb0005" "etiqueta" => "1." 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Teschler" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:7 [ "tituloSerie" => "Thorax" "fecha" => "2002" "volumen" => "57" "numero" => "8" "paginaInicial" => "724" "paginaFinal" => "728" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12149535" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bb0045" "etiqueta" => "9." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Respiratory failure in Pompe disease: Treatment with noninvasive ventilation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "U. Mellies" 1 => "F. Stehling" 2 => "C. Dohna-Schwake" 3 => "R. Ragette" 4 => "H. Teschler" 5 => "T. Voit" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1212/01.WNL.0000158682.85052.C0" "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "2005" "volumen" => "64" "paginaInicial" => "1465" "paginaFinal" => "1467" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15851748" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bb0050" "etiqueta" => "10." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Enzyme replacement therapy in classical infantile Pompe disease: results of a ten-month follow-up study" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "L. Klinge" 1 => "V. Straub" 2 => "U. Neudorf" 3 => "T. Voit" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1055/s-2005-837543" "Revista" => array:6 [ "tituloSerie" => "Neuropediatrics" "fecha" => "2005" "volumen" => "36" "paginaInicial" => "6" "paginaFinal" => "11" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15776317" "web" => "Medline" ] ] ] ] ] ] ] ] 10 => array:3 [ "identificador" => "bb0055" "etiqueta" => "11." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Klinge" 1 => "V. Straub" 2 => "U. Neudorf" 3 => "J. Schaper" 4 => "T. Bosbach" 5 => "K. Gorlinger" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.nmd.2004.10.009" "Revista" => array:7 [ "tituloSerie" => "Neuromuscul Disord" "fecha" => "2005" "volumen" => "15" "numero" => "1" "paginaInicial" => "24" "paginaFinal" => "31" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15639117" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "pt" "url" => "/08732159/0000001400000001/v1_201509151510/S0873215915302257/v1_201509151510/pt/main.assets" "Apartado" => array:4 [ "identificador" => "43360" "tipo" => "SECCION" "pt" => array:2 [ "titulo" => "Casos Clínicos/Cases Reports" "idiomaDefecto" => true ] "idiomaDefecto" => "pt" ] "PDF" => "https://static.elsevier.es/multimedia/08732159/0000001400000001/v1_201509151510/S0873215915302257/v1_201509151510/pt/main.pdf?idApp=UINPBA00004E&text.app=https://journalpulmonology.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0873215915302257?idApp=UINPBA00004E" ]
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ISSN: 08732159Original language: Portuguese
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| 2020 March | 37 | 17 | 54 |
| 2020 February | 36 | 22 | 58 |
| 2020 January | 44 | 27 | 71 |
| 2019 December | 39 | 21 | 60 |
| 2019 November | 52 | 25 | 77 |
| 2019 October | 30 | 13 | 43 |
| 2019 September | 67 | 23 | 90 |
| 2019 August | 63 | 25 | 88 |
| 2019 July | 61 | 13 | 74 |
| 2019 June | 51 | 12 | 63 |
| 2019 May | 63 | 35 | 98 |
| 2019 April | 53 | 19 | 72 |
| 2019 March | 72 | 18 | 90 |
| 2019 February | 67 | 11 | 78 |
| 2019 January | 79 | 15 | 94 |
| 2018 December | 32 | 6 | 38 |
| 2018 November | 10 | 4 | 14 |
| 2018 October | 18 | 5 | 23 |
| 2018 September | 19 | 7 | 26 |
| 2018 August | 61 | 25 | 86 |
| 2018 July | 39 | 24 | 63 |
| 2018 June | 65 | 19 | 84 |
| 2018 May | 71 | 28 | 99 |
| 2018 April | 94 | 42 | 136 |
| 2018 March | 71 | 38 | 109 |
| 2018 February | 32 | 9 | 41 |
| 2018 January | 71 | 17 | 88 |
| 2017 December | 65 | 20 | 85 |
| 2017 November | 44 | 19 | 63 |
| 2017 October | 30 | 11 | 41 |
| 2017 September | 34 | 15 | 49 |
| 2017 August | 22 | 16 | 38 |
| 2017 July | 21 | 12 | 33 |
| 2017 June | 23 | 11 | 34 |
| 2017 May | 52 | 18 | 70 |
| 2017 April | 15 | 12 | 27 |
| 2017 March | 20 | 8 | 28 |
| 2017 February | 11 | 7 | 18 |
| 2017 January | 16 | 5 | 21 |
| 2016 December | 20 | 13 | 33 |
| 2016 November | 12 | 8 | 20 |
| 2016 October | 13 | 15 | 28 |
| 2016 September | 6 | 4 | 10 |
| 2016 August | 4 | 2 | 6 |
| 2016 July | 2 | 3 | 5 |
| 2016 June | 1 | 4 | 5 |
| 2016 May | 2 | 8 | 10 |
| 2016 April | 9 | 8 | 17 |
| 2016 March | 2 | 11 | 13 |
| 2016 February | 3 | 6 | 9 |
| 2016 January | 5 | 2 | 7 |
| 2015 December | 7 | 2 | 9 |
| 2015 November | 2 | 3 | 5 |
| 2015 October | 2 | 3 | 5 |
Show all
