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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 autoss&#243;mica recessiva caracterizada pela hist&#243;ria de infec&#231;&#245;es de repeti&#231;&#227;o do aparelho respirat&#243;rio superior e inferior&#44; rinossinusite e bronquite associada a <span class="elsevierStyleItalic">situs inversus</span> completo ou parcial&#46; Os autores apresentam um doente de 78 anos&#44; eurocaucasiano&#44; com rinossinusites&#44; bronquite cr&#243;nica e dispneia&#44; otite m&#233;dia com d&#233;fices auditivos&#44; infertilidade&#44; seguido em consulta de gastrenterologia por dispepsia e obstipa&#231;&#227;o h&#225; v&#225;rios anos&#46; Realizou v&#225;rios exames que mostraram&#58; agenesia frontal direita&#44; espessamento br&#244;nquico&#44; bronquiectasias&#44; cego e c&#243;lon ascendente localizados na fossa il&#237;aca esquerda&#46; Excluiu-se imunodefici&#234;ncia&#44; alergias&#44; fibrose qu&#237;stica e outros&#46; No decurso da investiga&#231;&#227;o conclu&#237;mos que se tratava de um caso de discinesia ciliar prim&#225;ria&#46; Pela raridade deste caso&#44; decidimos apresent&#225;-lo&#46;</p><p id="sp0010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">Rev Port Pneumol 2009&#59; XV &#40;1&#41;&#58; 115-120</span></p></span>"
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Journal Information
Vol. 15. Issue 1.
Pages 115-120 (January - February 2009)
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Vol. 15. Issue 1.
Pages 115-120 (January - February 2009)
Caso Clínico/Case Report
Open Access
Um caso raro de discinesia ciliar primária associada a heterotaxia
A rare case of primary ciliary dyskinesia with heterotaxy
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Cátia Quintela1, Cláudia Meireles2, Maria João Bettencourt3, Augusto Ribeirinho4, Teresa Bentes3
1 Interna do Internato Complementar de Gastrenterologia, Centro Hospitalar de Lisboa Central – Hospital Santo António dos Capuchos, Lisboa.
2 Interna do Internato Complementar de Medicina Interna, Centro Hospitalar de Lisboa Central – Hospital Santo António dos Capuchos, Lisboa.
3 Assistente Graduada de Gastrenterologia, Centro Hospitalar de Lisboa Central – Hospital Santo António dos Capuchos, Lisboa.
4 Assistente de Medicina Interna, Centro Hospitalar de Lisboa Central – Hospital Santo António dos Capuchos, Lisboa.
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Article information
Resumo

A discinesia ciliar primária é uma doença autossómica recessiva caracterizada pela história de infecções de repetição do aparelho respiratório superior e inferior, rinossinusite e bronquite associada a situs inversus completo ou parcial. Os autores apresentam um doente de 78 anos, eurocaucasiano, com rinossinusites, bronquite crónica e dispneia, otite média com défices auditivos, infertilidade, seguido em consulta de gastrenterologia por dispepsia e obstipação há vários anos. Realizou vários exames que mostraram: agenesia frontal direita, espessamento brônquico, bronquiectasias, cego e cólon ascendente localizados na fossa ilíaca esquerda. Excluiu-se imunodeficiência, alergias, fibrose quística e outros. No decurso da investigação concluímos que se tratava de um caso de discinesia ciliar primária. Pela raridade deste caso, decidimos apresentá-lo.

Rev Port Pneumol 2009; XV (1): 115-120

Palavras-chave:
Discinesia ciliar primária
heterotaxia
Abstract

Primary ciliary dyskinesia is an autosomal recessive disease with a clinical history of upper and lowers respiratory infections, rhinosinusitis and bronquitis associated with complete or partial situs inversus. The authors present a 78-year-old male caucasian patient with rhinosinusitis, lower respiratory tract infection and dyspnea, chronic otitis with hearing deficit and infertility followed in Gastroenterology for dyspepsia and constipation. The radiological studies revealed agenesis of right frontal sinus; bronchial wall thickening; bronchiectasis; cecum and ascending colon located on the left and small bowel occupies right side of abdomen. He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia with heterotaxy. For the rarity of this case we decided to present it.

Rev Port Pneumol 2009; XV (1): 115-120

Key-words:
Primary ciliary dyskinesia
heterotaxy
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Bibliografia
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Discinesia ciliar primária.
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An Med Interna (Madrid), 19 (2002), pp. 460-462
Copyright © 2009. Sociedade Portuguesa de Pneumologia/SPP
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