A mask of many diseases: a clinical case of diagnostics of primary ciliary diskinesia

Introduction . Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies, characterized by involvement of all parts of the respiratory tract with the development of a chronic inflammatory process and bronchiectasis. Aim . To describe the observation of a patient with PCD in order to familiarize physicians with the clinical features of the disease and current diagnostic capabilities. Materials and methods . A clinical case of PCD detected in a child followed at the Khabarovsk Branch of the Far Eastern Scientific Center of Physiology and Pathology of Respiration — Research Institute for the Protection of Motherhood and Childhood — is presented. Results . Based on anamnestic (pulmonological history since six months of age, repeated protracted bronchitis, pneumonias), clinical (frequent rhinitis, otitis, wet cough), and instrumental (spiral computed tomography, bronchoscopy) data, PCD was suspected in the child. High-speed video microscopy revealed a marked decrease in ciliated epithelium function due to a reduction in the percentage of cells with motile cilia, decreased ciliary beat frequency, and an altered beat pattern. Whole-genome testing detected a compound heterozygote in the DNAH9 gene associated with the disease: primary ciliary dyskinesia, type 40. The patient was diagnosed with: congenital malformation of the bronchi: primary ciliary dyskinesia Q32.4. Conclusion . The difficulties and possibilities of diagnosing PCD are demonstrated, facilitating the prescription of adequate systemic therapy — a key condition for an optimistic prognosis in children with this nosology.