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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

Defeitos na ultraestrutura ciliar, mutações genéticas e padrão de batimento ciliar na discinesia ciliar primária.
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Related In: Results  -  Collection

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f08: Defeitos na ultraestrutura ciliar, mutações genéticas e padrão de batimento ciliar na discinesia ciliar primária.

Mentions: A ausência parcial de dineína, como defeito primário, é considerada controversa e requer mais estudos para sua confirmação.(43) A Figura 2 mostra os mais importantes defeitos ultraestruturais descritos.


Diagnosis of primary ciliary dyskinesia.

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

Defeitos na ultraestrutura ciliar, mutações genéticas e padrão de batimento ciliar na discinesia ciliar primária.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f08: Defeitos na ultraestrutura ciliar, mutações genéticas e padrão de batimento ciliar na discinesia ciliar primária.
Mentions: A ausência parcial de dineína, como defeito primário, é considerada controversa e requer mais estudos para sua confirmação.(43) A Figura 2 mostra os mais importantes defeitos ultraestruturais descritos.

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