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Primary ciliary dyskinezia

Publication at Second Faculty of Medicine |
2016

Abstract

Primary ciliary dyskinesia is a rare disease affecting mainly respiratory system and caused by the defect in the structure or function of motile cilia. Respiratory manifestation starts in newborn period and continues to adulthood, the main symptom is wet cough, persistent rhinorrhea and recurrent otitis which may lead to hearing impairment.

Less than 50% of cases are linked with situs viscerum inversus, all adult patients have developed bronchiectasis. Diagnostic algorithm is composed of clinical suspicion, followed by screening methods (nasal NO and high-speed-videomicroscopy) and examination of ultrastructure, and, if available, genetic testing.

Treatment methods are derived from schedules designed for cystic fibrosis mucus, clearing methods are the most effective options. Present cardinal need in the field of PCD is the education of medical public to provide early accurate diagnostics.