Correspondência: Departamento da Criança e da Família do Hospital de Santa Maria, Avenida Professor Egas Moniz, 1649-035 Lisboa
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class="elsevierStyleBold">Correspondência:</span> Departamento da Criança e da Família do Hospital de Santa Maria, Avenida Professor Egas Moniz, 1649-035 Lisboa" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Primary ciliary dyskinesia revisited: Based on three clinical reports" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2009-11-24" "fechaAceptado" => "2010-05-13" "PalabrasClave" => array:2 [ "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec570282" "palabras" => array:2 [ 0 => "Discinesia ciliar primária" 1 => "<span class="elsevierStyleItalic">situs inversus</span> total" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key-words" "identificador" => "xpalclavsec570283" "palabras" => array:2 [ 0 => "Primary ciliary dyskinesia" 1 => "<span class="elsevierStyleItalic">situs inversus totalis</span>" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<span id="as0005" class="elsevierStyleSection elsevierViewall"><p id="sp0005" class="elsevierStyleSimplePara elsevierViewall">A discinesia ciliar primária é uma doença genética e clinicamente heterogénea, cuja patogénese assenta em compromisso da estrutura e função ciliares.</p><p id="sp0010" class="elsevierStyleSimplePara elsevierViewall">Cursa habitualmente com infecções respiratórias recorrentes, infertilidade e ainda <span class="elsevierStyleItalic">situs inversus</span> total em cerca de metade dos doentes.</p><p id="sp0015" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenotípica desta patologia o seu diagnóstico implica frequentemente um elevado índice de suspeição.</p><p id="sp0020" class="elsevierStyleSimplePara elsevierViewall">Com este artigo os autores procuraram rever os aspectos fundamentais relativos à etiopatogénese, quadro clínico e abordagens diagnóstica e terapêutica da discinesia ciliar primária, contextualizando-os na discussão de três casos clínicos.</p><p id="sp0025" class="elsevierStyleSimplePara elsevierViewall">Descrevem-se três doentes cujo quadro clínico inaugural foi marcado por síndroma de dificuldade respiratória neonatal associada, em dois doentes, a <span class="elsevierStyleItalic">situs inversus</span> total. A evolução clínica subsequente cursou com sintomatologia respiratória em dois doentes (tosse produtiva crónica num doente e episódios recorrentes de pneumonia e sibilância noutro) e atingimento do aparelho respiratório superior nos três. À data do diagnóstico de discinesia ciliar primária, os doentes apresentavam idades distintas (8 meses, 5 e 12 anos), sendo que os dois doentes com idades de diagnóstico mais tardias apresentavam nessa altura compromisso funcional respiratório do tipo obstrutivo.</p><p id="sp0030" class="elsevierStyleSimplePara elsevierViewall">Os autores discutem os diferentes padrões de apresentação clínica, a abordagem terapêutica e a evolução clínica subsequente, os factores potencialmente implicados no diagnóstico tardio e as suas repercussões prognósticas.</p><p id="sp0035" class="elsevierStyleSimplePara elsevierViewall">O objectivo primordial é alertar para manifestações clínicas precoces e/ou frequentes de discinesia ciliar primária, procurando deste modo influenciar o prognóstico pela melhoria do reconhecimento precoce desta patologia.</p><p id="sp0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010; XVI (5): 837-847</span></p></span>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="as0010" class="elsevierStyleSection elsevierViewall"><p id="sp0045" class="elsevierStyleSimplePara elsevierViewall">Primary ciliary dyskinesia is a genetically and clinically heterogeneous disorder. Its pathogenesis reflects structural and functional compromise of the cilia.</p><p id="sp0050" class="elsevierStyleSimplePara elsevierViewall">Common clinical manifestations include recurrent upper and lower respiratory tract infections and infertility, as well as <span class="elsevierStyleItalic">situs inversus totalis</span> in half of the affected patients.</p><p id="sp0055" class="elsevierStyleSimplePara elsevierViewall">Besides its rarity and phenotypic heterogeneity its diagnosis usually requires a high suspicion index.</p><p id="sp0060" class="elsevierStyleSimplePara elsevierViewall">The main purpose of this paper is to review the pathogenesis, clinical features, diagnostic and therapeutic approaches of primary ciliary dyskinesia beyond the discussion of three clinical reports.</p><p id="sp0065" class="elsevierStyleSimplePara elsevierViewall">We report the cases of three patients all with a past history of neonatal respiratory distress and two with <span class="elsevierStyleItalic">situs inversus totalis</span>. The subsequent clinical manifestations included lower airway symptoms in two patients (chronic productive cough and recurrent pneumonia and wheezing) and upper respiratory tract disease in all patients. Age at primary ciliary dyskinesia diagnosis differed considerably among patients (8<span class="elsevierStyleHsp" style=""></span>months, 5 and 12 years). The two patients with later diagnosis had already obstructive lung function compromise at the time of diagnosis.</p><p id="sp0070" class="elsevierStyleSimplePara elsevierViewall">The authors discuss the different clinical patterns presented, therapeutic strategies and the clinical progression that ensued, factors possibly implicated in late diagnosis and its prognostic consequences.</p><p id="sp0075" class="elsevierStyleSimplePara elsevierViewall">The main goal is to emphasize early and/or prevalent clinical features of primary ciliary dyskinesia in order to promote clinical awareness and early recognition of the disease.</p><p id="sp0080" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010; XVI (5): 837-847</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:23 [ 0 => array:3 [ "identificador" => "bb0005" "etiqueta" => "1." 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Original language: Portuguese
Year/Month | Html | Total | |
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2024 November | 13 | 7 | 20 |
2024 October | 109 | 58 | 167 |
2024 September | 121 | 52 | 173 |
2024 August | 84 | 53 | 137 |
2024 July | 104 | 47 | 151 |
2024 June | 94 | 55 | 149 |
2024 May | 80 | 46 | 126 |
2024 April | 68 | 55 | 123 |
2024 March | 63 | 34 | 97 |
2024 February | 43 | 30 | 73 |
2024 January | 37 | 32 | 69 |
2023 December | 38 | 29 | 67 |
2023 November | 53 | 34 | 87 |
2023 October | 51 | 43 | 94 |
2023 September | 34 | 35 | 69 |
2023 August | 31 | 22 | 53 |
2023 July | 37 | 38 | 75 |
2023 June | 35 | 19 | 54 |
2023 May | 39 | 37 | 76 |
2023 April | 33 | 23 | 56 |
2023 March | 28 | 25 | 53 |
2023 February | 23 | 26 | 49 |
2023 January | 23 | 40 | 63 |
2022 December | 25 | 27 | 52 |
2022 November | 44 | 39 | 83 |
2022 October | 46 | 33 | 79 |
2022 September | 34 | 35 | 69 |
2022 August | 43 | 60 | 103 |
2022 July | 34 | 52 | 86 |
2022 June | 32 | 35 | 67 |
2022 May | 34 | 40 | 74 |
2022 April | 30 | 30 | 60 |
2022 March | 24 | 34 | 58 |
2022 February | 24 | 35 | 59 |
2022 January | 31 | 43 | 74 |
2021 December | 29 | 36 | 65 |
2021 November | 33 | 35 | 68 |
2021 October | 54 | 44 | 98 |
2021 September | 41 | 46 | 87 |
2021 August | 36 | 52 | 88 |
2021 July | 40 | 34 | 74 |
2021 June | 34 | 37 | 71 |
2021 May | 25 | 23 | 48 |
2021 April | 43 | 47 | 90 |
2021 March | 48 | 31 | 79 |
2021 February | 59 | 13 | 72 |
2021 January | 33 | 12 | 45 |
2020 December | 19 | 13 | 32 |
2020 November | 52 | 15 | 67 |
2020 October | 26 | 19 | 45 |
2020 September | 71 | 26 | 97 |
2020 August | 63 | 19 | 82 |
2020 July | 75 | 20 | 95 |
2020 June | 63 | 15 | 78 |
2020 May | 76 | 23 | 99 |
2020 April | 60 | 8 | 68 |
2020 March | 66 | 9 | 75 |
2020 February | 61 | 36 | 97 |
2020 January | 51 | 13 | 64 |
2019 December | 54 | 25 | 79 |
2019 November | 68 | 14 | 82 |
2019 October | 56 | 16 | 72 |
2019 September | 65 | 20 | 85 |
2019 August | 64 | 15 | 79 |
2019 July | 55 | 21 | 76 |
2019 June | 61 | 16 | 77 |
2019 May | 63 | 37 | 100 |
2019 April | 64 | 17 | 81 |
2019 March | 118 | 13 | 131 |
2019 February | 105 | 12 | 117 |
2019 January | 96 | 19 | 115 |
2018 December | 49 | 8 | 57 |
2018 November | 7 | 1 | 8 |
2018 October | 13 | 5 | 18 |
2018 September | 20 | 6 | 26 |
2018 August | 51 | 23 | 74 |
2018 July | 26 | 25 | 51 |
2018 June | 53 | 20 | 73 |
2018 May | 44 | 22 | 66 |
2018 April | 46 | 27 | 73 |
2018 March | 44 | 41 | 85 |
2018 February | 11 | 10 | 21 |
2018 January | 29 | 17 | 46 |
2017 December | 20 | 17 | 37 |
2017 November | 31 | 14 | 45 |
2017 October | 13 | 18 | 31 |
2017 September | 17 | 9 | 26 |
2017 August | 14 | 10 | 24 |
2017 July | 11 | 9 | 20 |
2017 June | 21 | 11 | 32 |
2017 May | 29 | 10 | 39 |
2017 April | 15 | 2 | 17 |
2017 March | 14 | 4 | 18 |
2017 February | 13 | 3 | 16 |
2017 January | 11 | 4 | 15 |
2016 December | 12 | 4 | 16 |
2016 November | 7 | 3 | 10 |
2016 October | 18 | 6 | 24 |
2016 September | 10 | 6 | 16 |
2016 August | 4 | 1 | 5 |
2016 July | 3 | 2 | 5 |
2016 May | 6 | 7 | 13 |
2016 April | 1 | 3 | 4 |
2016 March | 7 | 5 | 12 |
2016 February | 4 | 8 | 12 |
2016 January | 9 | 5 | 14 |
2015 December | 6 | 5 | 11 |
2015 November | 5 | 1 | 6 |
2015 October | 2 | 2 | 4 |