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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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Screening for primary ciliary dyskinesia
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f05: Screening for primary ciliary dyskinesia

Mentions: The presence of inner dynein arm defects(3) or ciliary disorientation alone requires new samples in order to confirm the diagnosis. The ciliary ultrastructure report should be conclusive regarding the presence or absence of PCD-related defects. The results of all investigations should be expressed as a definitive diagnosis (Chart 3).


Diagnosis of primary ciliary dyskinesia.

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

Screening for primary ciliary dyskinesia
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f05: Screening for primary ciliary dyskinesia
Mentions: The presence of inner dynein arm defects(3) or ciliary disorientation alone requires new samples in order to confirm the diagnosis. The ciliary ultrastructure report should be conclusive regarding the presence or absence of PCD-related defects. The results of all investigations should be expressed as a definitive diagnosis (Chart 3).

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