Primary ciliary dyskinesia [43 genes]

Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease, genetically heterogeneous, characterized by the presence of rhinorrhea and purulent bronchorrhea from birth or the first months of life, recurrent infections of the upper and lower respiratory tract, otitis media (Middle Ear Infection), and infertility. In 40-50% of cases it is associated with situs inversus. It presents a prevalence of approximately 1/10,000-20,000 individuals. It is secondary to anomalous structure and function of the cilia present in the epithelium of the respiratory and reproductive tracts, which leads to defective mucociliary clearance with obstruction due to abnormally thick secretions, favouring bacterial colonization and overinfection. On rare occasions, X-linked inheritance or dominant autosomal has been described. In the last few years, mutations in more than 30 different genes responsible for 70% of PCD cases have been reported, which means a huge revolution in the diagnosis of the disease.