The expression Primary Ciliary Dyskinesia (DCP) indicates a whole group of congenital pathological conditions. They are largely diseases of genetic origin, characterized by a malfunction of the cilia of the respiratory mucosa. This results in the difficulty in removing excess mucus in the respiratory tract, which causes the appearance of other diseases.

In general, DCP affects about 1 person every 15,000. About 4,000 people suffer in Italy, although in many cases there is no clear diagnosis. The transmission is hereditary and linked to a genetic recessive mutation, so it is necessary that both parents are carriers. However, there are still unclear points in this regard, largely related to the large number of related proteins.

To date, approximately 250 proteins and mutations have been identified that could be linked to a malfunction of eyelashes. This explains why the clinical manifestations of primary ciliary dyskinesia are so heterogeneous. Nevertheless, about 50% of primary ciliary dyskinesia cases are linked to the so-called Kartagener syndrome. The syndrome is characterized by the presence of chronic sinusitis and bronchiectasis.

Usually the disease manifests itself in the neonatal period through respiratory problems and recurrent infections. Those who suffer often develop chronic bronchitis, which over the years can turn into bronchiectasis. Chronic sinusitis, nasal polyposis and otitis are also frequent. Common symptoms are muco-purulent secretions, as well as nasal obstructions.

Diagnosis is not always easy. In some of its manifestations, primary ciliary dyskinesia causes abnormalities in the viscera, cardiac and abdominal. In these cases, the diagnosis is certainly easier. However, the variety of clinical manifestations makes certain cases much more subtle and difficult to identify.

Source: dcp-pisa.it