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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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Ciliary ultrastructural defects, genetic mutations, and ciliary beat pattern in patients with primary ciliary dyskinesia.
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f02: Ciliary ultrastructural defects, genetic mutations, and ciliary beat pattern in patients with primary ciliary dyskinesia.

Mentions: High-speed video imaging of the ciliary beat frequency and pattern contributes to the understanding of the effects of ciliary defects on mucus transport. It allows the visualization of the normal pattern of ciliary beating; that is, a forward power stroke followed by a slow, slightly sideways, backward recovery stroke. Changes in the normal pattern of ciliary beating can be associated with specific genetic defects.(16-18)Chart 1 shows the correlations among reported ciliary ultrastructural defects, gene mutations, and ciliary beat patterns.(16) The most common genetic mutations include the DNAH5 gene mutation (in 15-28% of cases) and the DNAI1 gene mutation (in 2-10% of cases).(19)


Diagnosis of primary ciliary dyskinesia.

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

Ciliary ultrastructural defects, genetic mutations, and ciliary beat pattern in patients with primary ciliary dyskinesia.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f02: Ciliary ultrastructural defects, genetic mutations, and ciliary beat pattern in patients with primary ciliary dyskinesia.
Mentions: High-speed video imaging of the ciliary beat frequency and pattern contributes to the understanding of the effects of ciliary defects on mucus transport. It allows the visualization of the normal pattern of ciliary beating; that is, a forward power stroke followed by a slow, slightly sideways, backward recovery stroke. Changes in the normal pattern of ciliary beating can be associated with specific genetic defects.(16-18)Chart 1 shows the correlations among reported ciliary ultrastructural defects, gene mutations, and ciliary beat patterns.(16) The most common genetic mutations include the DNAH5 gene mutation (in 15-28% of cases) and the DNAI1 gene mutation (in 2-10% of cases).(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