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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

Corte axial de TCAR de tórax de paciente de 30 anos de idade com discinesia ciliar primária (ausência de braços externos e internos de dineína) e doença pulmonar avançada. Nota-se importante comprometimento das bases pulmonares, com imagens de espessamento brônquico, sinal do anel de sinete, áreas de consolidação e diferenças de atenuação. Fonte: Divisão de Pneumologia Clínica do Instituto do Coração, Hospital das Clínicas. Faculdade de Medicina da Universidade de São Paulo (SP), Brasil, 2014.
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f12: Corte axial de TCAR de tórax de paciente de 30 anos de idade com discinesia ciliar primária (ausência de braços externos e internos de dineína) e doença pulmonar avançada. Nota-se importante comprometimento das bases pulmonares, com imagens de espessamento brônquico, sinal do anel de sinete, áreas de consolidação e diferenças de atenuação. Fonte: Divisão de Pneumologia Clínica do Instituto do Coração, Hospital das Clínicas. Faculdade de Medicina da Universidade de São Paulo (SP), Brasil, 2014.


Diagnosis of primary ciliary dyskinesia.

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

Corte axial de TCAR de tórax de paciente de 30 anos de idade com discinesia ciliar primária (ausência de braços externos e internos de dineína) e doença pulmonar avançada. Nota-se importante comprometimento das bases pulmonares, com imagens de espessamento brônquico, sinal do anel de sinete, áreas de consolidação e diferenças de atenuação. Fonte: Divisão de Pneumologia Clínica do Instituto do Coração, Hospital das Clínicas. Faculdade de Medicina da Universidade de São Paulo (SP), Brasil, 2014.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f12: Corte axial de TCAR de tórax de paciente de 30 anos de idade com discinesia ciliar primária (ausência de braços externos e internos de dineína) e doença pulmonar avançada. Nota-se importante comprometimento das bases pulmonares, com imagens de espessamento brônquico, sinal do anel de sinete, áreas de consolidação e diferenças de atenuação. Fonte: Divisão de Pneumologia Clínica do Instituto do Coração, Hospital das Clínicas. Faculdade de Medicina da Universidade de São Paulo (SP), Brasil, 2014.
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