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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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Electron micrographs of ciliary ultrastructural defects. In A, absence of outer dynein arms (magnification, ×65,000); in B, microtubular disorganization (magnification: ×30,000); in C, absence of the central pair of microtubules (9+0 arrangement), which is usually associated with the 8+2 transposition defect (magnification: ×65,000); in D, 8+2 transposition defect (magnification: ×65,000). Source: Department of Pathology, University of São Paulo School of Medicine, São Paulo, Brazil, 2010.
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f04: Electron micrographs of ciliary ultrastructural defects. In A, absence of outer dynein arms (magnification, ×65,000); in B, microtubular disorganization (magnification: ×30,000); in C, absence of the central pair of microtubules (9+0 arrangement), which is usually associated with the 8+2 transposition defect (magnification: ×65,000); in D, 8+2 transposition defect (magnification: ×65,000). Source: Department of Pathology, University of São Paulo School of Medicine, São Paulo, Brazil, 2010.

Mentions: Partial absence of dynein as a primary defect is considered controversial and requires further studies for confirmation.(43)Figure 2 shows the major ultrastructural defects described to date.


Diagnosis of primary ciliary dyskinesia.

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

Electron micrographs of ciliary ultrastructural defects. In A, absence of outer dynein arms (magnification, ×65,000); in B, microtubular disorganization (magnification: ×30,000); in C, absence of the central pair of microtubules (9+0 arrangement), which is usually associated with the 8+2 transposition defect (magnification: ×65,000); in D, 8+2 transposition defect (magnification: ×65,000). Source: Department of Pathology, University of São Paulo School of Medicine, São Paulo, Brazil, 2010.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f04: Electron micrographs of ciliary ultrastructural defects. In A, absence of outer dynein arms (magnification, ×65,000); in B, microtubular disorganization (magnification: ×30,000); in C, absence of the central pair of microtubules (9+0 arrangement), which is usually associated with the 8+2 transposition defect (magnification: ×65,000); in D, 8+2 transposition defect (magnification: ×65,000). Source: Department of Pathology, University of São Paulo School of Medicine, São Paulo, Brazil, 2010.
Mentions: Partial absence of dynein as a primary defect is considered controversial and requires further studies for confirmation.(43)Figure 2 shows the major ultrastructural defects described to date.

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