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Diagnosis of primary ciliary dyskinesia.

Olm MA, Caldini EG, Mauad T - J Bras Pneumol (2015 May-Jun)

Bottom Line: It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems.We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies.In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, School of Medicine, University of São Paulo, São Paulo, Brazil.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

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Related in: MedlinePlus

Axial HRCT scan of the chest of a 30-year-old patient with primary ciliary dyskinesia (absence of outer and inner dynein arms) and advanced lung disease. Note significant involvement of the lung bases, with bronchial wall thickening, the signet ring sign, areas of consolidation, and attenuation differences. Source: Department of Clinical Pulmonology, Heart Institute, University of São Paulo School of Medicine - Hospital das Clínicas, São Paulo, Brazil, 2014.
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f06: Axial HRCT scan of the chest of a 30-year-old patient with primary ciliary dyskinesia (absence of outer and inner dynein arms) and advanced lung disease. Note significant involvement of the lung bases, with bronchial wall thickening, the signet ring sign, areas of consolidation, and attenuation differences. Source: Department of Clinical Pulmonology, Heart Institute, University of São Paulo School of Medicine - Hospital das Clínicas, São Paulo, Brazil, 2014.

Mentions: In patients with PCD, a HRCT scan of the chest (Figure 3) shows middle and lower lobe involvement-the middle and lower lobes being more affected than the upper lobes in PCD patients when compared with cystic fibrosis patients (in whom the upper lobes are more affected than the middle and lower lobes)-with subsegmental atelectasis, peribronchial thickening, mucus plugging, evidence of air trapping, ground-glass opacities,(25) areas of consolidation, and well-defined bronchiectasis.(19)


Diagnosis of primary ciliary dyskinesia.

Olm MA, Caldini EG, Mauad T - J Bras Pneumol (2015 May-Jun)

Axial HRCT scan of the chest of a 30-year-old patient with primary ciliary dyskinesia (absence of outer and inner dynein arms) and advanced lung disease. Note significant involvement of the lung bases, with bronchial wall thickening, the signet ring sign, areas of consolidation, and attenuation differences. Source: Department of Clinical Pulmonology, Heart Institute, University of São Paulo School of Medicine - Hospital das Clínicas, São Paulo, Brazil, 2014.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4541762&req=5

f06: Axial HRCT scan of the chest of a 30-year-old patient with primary ciliary dyskinesia (absence of outer and inner dynein arms) and advanced lung disease. Note significant involvement of the lung bases, with bronchial wall thickening, the signet ring sign, areas of consolidation, and attenuation differences. Source: Department of Clinical Pulmonology, Heart Institute, University of São Paulo School of Medicine - Hospital das Clínicas, São Paulo, Brazil, 2014.
Mentions: In patients with PCD, a HRCT scan of the chest (Figure 3) shows middle and lower lobe involvement-the middle and lower lobes being more affected than the upper lobes in PCD patients when compared with cystic fibrosis patients (in whom the upper lobes are more affected than the middle and lower lobes)-with subsegmental atelectasis, peribronchial thickening, mucus plugging, evidence of air trapping, ground-glass opacities,(25) areas of consolidation, and well-defined bronchiectasis.(19)

Bottom Line: It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems.We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies.In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, School of Medicine, University of São Paulo, São Paulo, Brazil.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

Show MeSH
Related in: MedlinePlus