To date, PCD has been poorly diagnosed in children; indeed most of the therapeutic strategies used are derived from cystic fibrosis protocols, underscoring the need for more PCD research. Although unproven, it seems likely that early diagnosis is important for the preservation of pulmonary function, quality of life and life expectancy in this disease, and therefore there is a great need for more diagnostic awareness and evidence-based treatment to prevent and reduce complications in adulthood. Clinical evaluation together with direct visualization of the frequency and pattern of cilia movement and genetic tests are useful when PCD is suspected, but the confirmation is obtained with E.M. examination of ciliated cells obtained with nasal brushing or bronchial mucosal biopsy, which is generally considered more sensitive and requires the use of FOB.

In children with PCD, we plan to perform genetic analysis to increase the knowledge in this field because nowadays only 20% of patients with PCD have a clear genetic pattern. This is the most interesting information that our study can add to the comprehension of this disease and its follow-up. In fact, possible correlations between phenotypes and genotypes would be then tried. Another possible consequence of this study is that: if the light microscope analysis, and nasal NO measurements, together with genetic analysis in selected patients demonstrate high sensitivity and specificity for PCD diagnosis, it will be possible in the future to omit E.M. examination of nasal brushing or bronchial mucosal biopsy to confirm the diagnosis, thereby reducing costs of diagnosis procedures.

Main objective:

The main goal of the project is to improve and simplify diagnostic procedures of PCD, enabling an early diagnosis and subsequently the prevention of complications caused by inappropriate or late established diagnosis.
In a patient with suspected PCD, the complex of symptoms will become the clear indication for cilia examination to insert into the diagnostic algorithm. The codification of the typical symptomatology and the introduction of sensitive and specific screening examinations (light microscope analysis together with genetic study) will reduce the need for invasive bronchial sampling during FOB performed under deep sedation and, consequently, the costs of PCD diagnosis for the National Health Service.

Secondary objectives:

1. Presentation of clinical symptomatology to the medical community with the subsequent increase in the number of patients submitted to ciliary activity examination.

2. Increased number of patients examined for PCD. The modified diagnostic algorithm will increase the total number of diagnosed PCD patients and will shift the age at diagnosis to early childhood. This will allow the introduction of an appropriate therapy and the reduction in the degree of chronic inflammatory changes and the risk of complications (bronchiectasis, hear loss, etc.), which are more evident in adulthood, causing a reduced quality of life, an increase in the loss of working days, and high costs for the National Health Service.

3. New diagnostic procedure design to identify patients affected by PCD with genetic molecular tests (including Immunofluorescence).