Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia

Abstract

The aim of this study will be to identify and assess the frequency of the prevalent mutations and the clinical, radiological and functional state of the disease, as well as assessing the quality of life of patients with primary ciliary dyskinesia (PCD). Adults and children with clinical features of: I) chronic cough, bronchiectasis disease or severe upper airway / persistent (otitis/chronic rhinosinusitis of unknown cause; II) situs inversus totalis, or any heterotaxy syndrome; III) infants with neonatal respiratory distress without apparent cause, IV) cerebral ventriculomegaly, in the absence of obvious cause; V) siblings of patients with DCP; VI) impaired motility of the sperm flagellum and VII) and recurrent women ectopic pregnancy will be included in the study. All patients with suspect of DCP will be submitted to clinical, radiological and functional assessment including: high resolution computed tomography scan of the chest, measurement of exaleted nasal nitric oxide, spirometry, observation of ciliary beating by video microscopy observation of structural changes of the eyelashes by eletronic microscopy. Patients with high suspicion of DCP by combining 1) clinical history, X-ray and low values of nasal nitric oxide; or 2) patients with structural changes in eyelashes in electronic microscopy or 3) consistent and reproducible abnormalities of ciliary beat. The patients will undergo genetic analysis to identify key mutations of genes previously associated with DCP. Those with DCP confirmed respond to the questionnaire of quality of life developed by the consortium BestCilia.