Primary ciliary dyskinesia: state of the problem and prospects

Abstract

This review article provides an up-to-date understanding of primary ciliary dyskinesia (immotile-cilia syndrome) and its particular variant, Cartagener syndrome, a genetically determined pathology leading to chronic inflammatory lesions of the respiratory tract, hearing organs, and impaired fertile function. This orphan disease is not well known to the general medical community. Primary ciliary dyskinesia is a rare hereditary disease of the group of ciliopathies that is based on a genetically determined defect in the ultrastructure of the cilia of the respiratory tract epithelium and similar structures, leading to impaired motor function. Various step-by-step algorithms have been proposed to verify the diagnosis, the obligatory components of which are assessment of the motor ability of the cilia of the atopic epithelium, nasal nitric oxide (nNO) level, electron microscopic examination of a bronchial mucosal biopsy specimen, and genetic examination. There is no gold standard for diagnosis of primary ciliary dyskinesia. Diagnostic search in patients should be complex and consist of certain stages. Currently, therapeutic strategies for primary ciliary dyskinesia are based on approved clinical guidelines. In many countries, the therapy of patients with primary ciliary dyskinesia is based on treatment protocols for patients with cystic fibrosis, despite the obvious differences in these diseases. The main goal of therapy is adequate airway clearance, control and prevention of infectious diseases, and elimination of potential airway exposure to various types of pollutants, including tobacco smoke. The article describes the clinic, characteristic symptoms of the disease, its prevalence and genetic aspects, discusses the problems of diagnosis, treatment, prognosis and monitoring of these children, as well as the need for a national register of patients with this pathology.