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        "resumen" => "<span id="as0005" class="elsevierStyleSection elsevierViewall"><p id="sp0005" class="elsevierStyleSimplePara elsevierViewall">A discinesia ciliar prim&#225;ria &#233; uma doen&#231;a gen&#233;tica e clinicamente heterog&#233;nea&#44; cuja patog&#233;nese assenta em compromisso da estrutura e fun&#231;&#227;o ciliares&#46;</p><p id="sp0010" class="elsevierStyleSimplePara elsevierViewall">Cursa habitualmente com infec&#231;&#245;es respirat&#243;rias recorrentes&#44; infertilidade e ainda <span class="elsevierStyleItalic">situs inversus</span> total em cerca de metade dos doentes&#46;</p><p id="sp0015" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenot&#237;pica desta patologia o seu diagn&#243;stico implica frequentemente um elevado &#237;ndice de suspei&#231;&#227;o&#46;</p><p id="sp0020" class="elsevierStyleSimplePara elsevierViewall">Com este artigo os autores procuraram rever os aspectos fundamentais relativos &#224; etiopatog&#233;nese&#44; quadro cl&#237;nico e abordagens diagn&#243;stica e terap&#234;utica da discinesia ciliar prim&#225;ria&#44; contextualizando-os na discuss&#227;o de tr&#234;s casos cl&#237;nicos&#46;</p><p id="sp0025" class="elsevierStyleSimplePara elsevierViewall">Descrevem-se tr&#234;s doentes cujo quadro cl&#237;nico inaugural foi marcado por s&#237;ndroma de dificuldade respirat&#243;ria neonatal associada&#44; em dois doentes&#44; a <span class="elsevierStyleItalic">situs inversus</span> total&#46; A evolu&#231;&#227;o cl&#237;nica subsequente cursou com sintomatologia respirat&#243;ria em dois doentes &#40;tosse produtiva cr&#243;nica num doente e epis&#243;dios recorrentes de pneumonia e sibil&#226;ncia noutro&#41; e atingimento do aparelho respirat&#243;rio superior nos tr&#234;s&#46; &#192; data do diagn&#243;stico de discinesia ciliar prim&#225;ria&#44; os doentes apresentavam idades distintas &#40;8 meses&#44; 5 e 12 anos&#41;&#44; sendo que os dois doentes com idades de diagn&#243;stico mais tardias apresentavam nessa altura compromisso funcional respirat&#243;rio do tipo obstrutivo&#46;</p><p id="sp0030" class="elsevierStyleSimplePara elsevierViewall">Os autores discutem os diferentes padr&#245;es de apresenta&#231;&#227;o cl&#237;nica&#44; a abordagem terap&#234;utica e a evolu&#231;&#227;o cl&#237;nica subsequente&#44; os factores potencialmente implicados no diagn&#243;stico tardio e as suas repercuss&#245;es progn&#243;sticas&#46;</p><p id="sp0035" class="elsevierStyleSimplePara elsevierViewall">O objectivo primordial &#233; alertar para manifesta&#231;&#245;es cl&#237;nicas precoces e&#47;ou frequentes de discinesia ciliar prim&#225;ria&#44; procurando deste modo influenciar o progn&#243;stico pela melhoria do reconhecimento precoce desta patologia&#46;</p><p id="sp0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010&#59; XVI &#40;5&#41;&#58; 837-847</span></p></span>"
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        "resumen" => "<span id="as0010" class="elsevierStyleSection elsevierViewall"><p id="sp0045" class="elsevierStyleSimplePara elsevierViewall">Primary ciliary dyskinesia is a genetically and clinically heterogeneous disorder&#46; Its pathogenesis reflects structural and functional compromise of the cilia&#46;</p><p id="sp0050" class="elsevierStyleSimplePara elsevierViewall">Common clinical manifestations include recurrent upper and lower respiratory tract infections and infertility&#44; as well as <span class="elsevierStyleItalic">situs inversus totalis</span> in half of the affected patients&#46;</p><p id="sp0055" class="elsevierStyleSimplePara elsevierViewall">Besides its rarity and phenotypic heterogeneity its diagnosis usually requires a high suspicion index&#46;</p><p id="sp0060" class="elsevierStyleSimplePara elsevierViewall">The main purpose of this paper is to review the pathogenesis&#44; clinical features&#44; diagnostic and therapeutic approaches of primary ciliary dyskinesia beyond the discussion of three clinical reports&#46;</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>&#46; The subsequent clinical manifestations included lower airway symptoms in two patients &#40;chronic productive cough and recurrent pneumonia and wheezing&#41; and upper respiratory tract disease in all patients&#46; Age at primary ciliary dyskinesia diagnosis differed considerably among patients &#40;8<span class="elsevierStyleHsp" style=""></span>months&#44; 5 and 12 years&#41;&#46; The two patients with later diagnosis had already obstructive lung function compromise at the time of diagnosis&#46;</p><p id="sp0070" class="elsevierStyleSimplePara elsevierViewall">The authors discuss the different clinical patterns presented&#44; therapeutic strategies and the clinical progression that ensued&#44; factors possibly implicated in late diagnosis and its prognostic consequences&#46;</p><p id="sp0075" class="elsevierStyleSimplePara elsevierViewall">The main goal is to emphasize early and&#47;or prevalent clinical features of primary ciliary dyskinesia in order to promote clinical awareness and early recognition of the disease&#46;</p><p id="sp0080" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010&#59; XVI &#40;5&#41;&#58; 837-847</span></p></span>"
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Caso Clínico/Case Report
Discinesia ciliar primária revisitada: A propósito de três casos clínicos
Primary ciliary dyskinesia revisited: Based on three clinical reports
Joana Fermeiro1, Teresa Bandeira2, Luísa Lobo3, Luísa Pereira2,
Corresponding author
mluisafpereira@gmail.com

Correspondência: Departamento da Criança e da Família do Hospital de Santa Maria, Avenida Professor Egas Moniz, 1649-035 Lisboa
1 Interna do Internato Complementar de Pediatria
2 Assistente Hospitalar Graduada de Pediatria
3 Assistente Hospitalar Graduada de Radiologia
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        "resumen" => "<span id="as0005" class="elsevierStyleSection elsevierViewall"><p id="sp0005" class="elsevierStyleSimplePara elsevierViewall">A discinesia ciliar prim&#225;ria &#233; uma doen&#231;a gen&#233;tica e clinicamente heterog&#233;nea&#44; cuja patog&#233;nese assenta em compromisso da estrutura e fun&#231;&#227;o ciliares&#46;</p><p id="sp0010" class="elsevierStyleSimplePara elsevierViewall">Cursa habitualmente com infec&#231;&#245;es respirat&#243;rias recorrentes&#44; infertilidade e ainda <span class="elsevierStyleItalic">situs inversus</span> total em cerca de metade dos doentes&#46;</p><p id="sp0015" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenot&#237;pica desta patologia o seu diagn&#243;stico implica frequentemente um elevado &#237;ndice de suspei&#231;&#227;o&#46;</p><p id="sp0020" class="elsevierStyleSimplePara elsevierViewall">Com este artigo os autores procuraram rever os aspectos fundamentais relativos &#224; etiopatog&#233;nese&#44; quadro cl&#237;nico e abordagens diagn&#243;stica e terap&#234;utica da discinesia ciliar prim&#225;ria&#44; contextualizando-os na discuss&#227;o de tr&#234;s casos cl&#237;nicos&#46;</p><p id="sp0025" class="elsevierStyleSimplePara elsevierViewall">Descrevem-se tr&#234;s doentes cujo quadro cl&#237;nico inaugural foi marcado por s&#237;ndroma de dificuldade respirat&#243;ria neonatal associada&#44; em dois doentes&#44; a <span class="elsevierStyleItalic">situs inversus</span> total&#46; A evolu&#231;&#227;o cl&#237;nica subsequente cursou com sintomatologia respirat&#243;ria em dois doentes &#40;tosse produtiva cr&#243;nica num doente e epis&#243;dios recorrentes de pneumonia e sibil&#226;ncia noutro&#41; e atingimento do aparelho respirat&#243;rio superior nos tr&#234;s&#46; &#192; data do diagn&#243;stico de discinesia ciliar prim&#225;ria&#44; os doentes apresentavam idades distintas &#40;8 meses&#44; 5 e 12 anos&#41;&#44; sendo que os dois doentes com idades de diagn&#243;stico mais tardias apresentavam nessa altura compromisso funcional respirat&#243;rio do tipo obstrutivo&#46;</p><p id="sp0030" class="elsevierStyleSimplePara elsevierViewall">Os autores discutem os diferentes padr&#245;es de apresenta&#231;&#227;o cl&#237;nica&#44; a abordagem terap&#234;utica e a evolu&#231;&#227;o cl&#237;nica subsequente&#44; os factores potencialmente implicados no diagn&#243;stico tardio e as suas repercuss&#245;es progn&#243;sticas&#46;</p><p id="sp0035" class="elsevierStyleSimplePara elsevierViewall">O objectivo primordial &#233; alertar para manifesta&#231;&#245;es cl&#237;nicas precoces e&#47;ou frequentes de discinesia ciliar prim&#225;ria&#44; procurando deste modo influenciar o progn&#243;stico pela melhoria do reconhecimento precoce desta patologia&#46;</p><p id="sp0040" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010&#59; XVI &#40;5&#41;&#58; 837-847</span></p></span>"
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        "resumen" => "<span id="as0010" class="elsevierStyleSection elsevierViewall"><p id="sp0045" class="elsevierStyleSimplePara elsevierViewall">Primary ciliary dyskinesia is a genetically and clinically heterogeneous disorder&#46; Its pathogenesis reflects structural and functional compromise of the cilia&#46;</p><p id="sp0050" class="elsevierStyleSimplePara elsevierViewall">Common clinical manifestations include recurrent upper and lower respiratory tract infections and infertility&#44; as well as <span class="elsevierStyleItalic">situs inversus totalis</span> in half of the affected patients&#46;</p><p id="sp0055" class="elsevierStyleSimplePara elsevierViewall">Besides its rarity and phenotypic heterogeneity its diagnosis usually requires a high suspicion index&#46;</p><p id="sp0060" class="elsevierStyleSimplePara elsevierViewall">The main purpose of this paper is to review the pathogenesis&#44; clinical features&#44; diagnostic and therapeutic approaches of primary ciliary dyskinesia beyond the discussion of three clinical reports&#46;</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>&#46; The subsequent clinical manifestations included lower airway symptoms in two patients &#40;chronic productive cough and recurrent pneumonia and wheezing&#41; and upper respiratory tract disease in all patients&#46; Age at primary ciliary dyskinesia diagnosis differed considerably among patients &#40;8<span class="elsevierStyleHsp" style=""></span>months&#44; 5 and 12 years&#41;&#46; The two patients with later diagnosis had already obstructive lung function compromise at the time of diagnosis&#46;</p><p id="sp0070" class="elsevierStyleSimplePara elsevierViewall">The authors discuss the different clinical patterns presented&#44; therapeutic strategies and the clinical progression that ensued&#44; factors possibly implicated in late diagnosis and its prognostic consequences&#46;</p><p id="sp0075" class="elsevierStyleSimplePara elsevierViewall">The main goal is to emphasize early and&#47;or prevalent clinical features of primary ciliary dyskinesia in order to promote clinical awareness and early recognition of the disease&#46;</p><p id="sp0080" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2010&#59; XVI &#40;5&#41;&#58; 837-847</span></p></span>"
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Article information
ISSN: 08732159
Original language: Portuguese
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