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        "resumen" => "<p id="spar0055" 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="spar0160" 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="spar0065" 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="spar0070" 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="spar0075" 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; 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; 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>"
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Journal Information
Vol. 16. Issue 5.
Pages 837-847 (September - October 2010)
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Vol. 16. Issue 5.
Pages 837-847 (September - October 2010)
Caso clínico
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Discinesia ciliar primária revisitada: A propósito de três casos clínicos
Primary ciliary dyskinesia revisited: Based on three clinical reports
Visits
1002
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.
, Doutor Paulo Magalhães Ramalho4
1 Interna do Internato Complementar de Pediatria – Centro Hospitalar Lisboa Norte, EPE
2 Assistente Hospitalar Graduada de Pediatria – Centro Hospitalar Lisboa Norte, EPE
3 Assistente Hospitalar Graduada de Radiologia – Centro Hospitalar Lisboa Norte, EPE
4 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
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A discinesia ciliar primária é uma doença genética e clinicamente heterogénea, cuja patogénese assenta em compromisso da estrutura e função ciliares.

Cursa habitualmente com infecções respiratórias recorrentes, infertilidade e ainda situs inversus total em cerca de metade dos doentes.

Dada a raridade e heterogeneidade fenotípica desta patologia o seu diagnóstico implica frequentemente um elevado índice de suspeição.

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.

Descrevem-se três doentes cujo quadro clínico inaugural foi marcado por síndroma de dificuldade respiratória neonatal associada, em dois doentes, a situs inversus 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.

Palavras-chave:
Discinesia ciliar primária
situs inversus total
Abstract

Primary ciliary dyskinesia is a genetically and clinically heterogeneous disorder. Its pathogenesis reflects structural and functional compromise of the cilia.

Common clinical manifestations include recurrent upper and lower respiratory tract infections and infertility, as well as situs inversus totalis in half of the affected patients.

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.

We report the cases of three patients all with a past history of neonatal respiratory distress and two with situs inversus totalis. 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.

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.

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.

Key-words:
Primary ciliary dyskinesia
situs inversus totalis
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