Clinical and genetic spectrum of primary ciliary dyskinesia in children

Abstract

Primary ciliary dyskinesia is a rare genetically determined pathology that leads to chronic inflammatory damage to the respiratory tract, hearing organs and impaired fertility. This article presents the preliminary results of a study conducted in the clinic aimed at the possibility of predicting the clinical course of the disease depending on the genetic variants of the disease, which enables, with timely diagnosis, personalizing the approach to the treatment of children with such a disabling disease as primary ciliary dyskinesia.Purpose. To determine the clinical and genetic variants of primary ciliary dyskinesia, and to identify patterns of disease development. Material and methods. The study included children from 0 to 18 years old with a verified defect of the ciliary apparatus, by analyzing the mobility of the cilia of the ciliary epithelium of the mucous membrane of the respiratory tract, and who underwent a next generation sequencing exome study.Results. The study revealed characteristic patterns of target organ damage, prevailing in a group of children with impaired cilia assembly factor, as well as in a group of children with damaged dynein arms.Conclusion. Thus, conducting a genetic examination in children with suspected primary ciliary dyskinesia is relevant not only to confirm the disease, but also to predict the course of the disease.