Primary ciliary dyskinesia. Diagnostics and treatment options

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous group of rare hereditary disorders. Mutations in a variety of different genes can cause PCD. The airway phenotype of the disease is explained by congenital defects of motile respiratory cilia. Decreased mucociliary clearance of the airways results in recurrent upper and lower airway infections and chronic destructive lung disease (bronchiectasis) with chronic lung failure. Depending on the genotype, further disease manifestations caused by ciliary defects, such as laterality defects (e.g., situs inversus, heterotaxia), infertility and hydrocephalus can be present. If there is clinical suspicion of PCD the diagnosis can be confirmed in most cases by determining the nasal nitric oxide (nNO)-production rate, high-speed video microscopic evaluation of the ciliary beat pattern, transmission electron and immunofluorescence microscopy and genetic testing. The care of PCD patients should be provided in specialized centers including regular assessment of the lung function, bacterial colonization of the airways and, if necessary, radiological examination. Pulmonary exacerbations should be treated with antibiotics. An ear, nose and throat (ENT) medical co-treatment is important. Other treatment principles are presented.