Correspondência: Departamento da Criança e da Família do Hospital de Santa Maria, Avenida Professor Egas Moniz, 1649-035 Lisboa.
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Hospitalar Graduada de Pediatria – Centro Hospitalar Lisboa Norte, EPE" "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Assistente Hospitalar Graduada de Radiologia – Centro Hospitalar Lisboa Norte, EPE" "etiqueta" => "<span class="elsevierStyleSup">3</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Unidade de Pneumologia Pediátrica, Cuidados Respiratórios Domiciliários e de Transição do HSM, Departamento da Criança e da Família do Hospital de Santa Maria – Centro Hospitalar Lisboa Norte, EPE" "etiqueta" => "<span class="elsevierStyleSup">4</span>" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Correspondência: 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" => "xpalclavsec161072" "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" => "xpalclavsec161071" "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" => "<p id="spar0055" 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="spar0160" 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="spar0065" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenotípica desta patologia o seu diagnóstico implica frequentemente um elevado índice de suspeição.</p><p id="spar0070" 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="spar0075" 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. 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. 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>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0030" 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="spar0035" 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="spar0040" class="elsevierStyleSimplePara elsevierViewall">Besides its rarity and phenotypic heterogeneity its diagnosis usually requires a high suspicion index. 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="spar0045" 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 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="spar0050" 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="spar0060" 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>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografia" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:23 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." 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