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Ann Otolaryngol Chir Cervicofac. 2005 Apr;122(2):63-8.

[Primary ciliary dyskinesia. Clinical presentation and diagnosis].

[Article in French]

Author information

1
Service ORL, Hôpital de Hautepierre 67098 Strasbourg Cedex. BRAUN.Jean-Jacques@wanadoo.fr

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function.

OBJECTIVE:

We analyzed the main clinical features and test results of PCD in order to evaluate their usefulness for diagnosis.

PATIENTS AND METHODS:

Retrospective study of 35 cases of PCD evaluated by the same team, with nasal brushings in all cases (special light microscopy) and electron microscopy and/or by isotopic mucociliary clearance study in some.

RESULTS:

In a cohort of 145 patients with suspected PCD, the diagnosis of PCD was established in 35 cases using a combination of compatible clinical features coupled with the study of nasal brushings: 13 females and 22 males, average age at time of diagnosis 25 years, situs inversus in 12 patients (34%).

CONCLUSION:

In the absence of consensus in the literature for diagnosis of PCD, we propose the association of the following diagnostic criteria: upper airway and bronchopulmonary infections beginning often early in the life, more inconstantly situs inversus, familial cases of PCD, consanguinity, infertility and permanent and ubiquitous abnormalities of ciliary structure/function. Nasal brushing with ciliary study (special light microscopy) seems to be an easy and reliable diagnostic criterion. Electron microscopy is necessary for proving ultrastructural abnormalities.

PMID:
15976621
[Indexed for MEDLINE]

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