Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment
https://doi.org/10.21508/1027-4065-2019-64-5-123-133
Abstract
Primary Ciliary Dyskinesia is an orphane disease from the group of ciliopathies based on genetically determined defect in the structure of the motor cilia of the epithelium of the respiratory system and similar structures. Pathology belongs to the group of autosomal recessive phenotypes with pronounced genetic heterogeneity. It is clinically characterized by a progressive inflammatory lesion of all parts of the respiratory tract in children, a decrease in fertile function in older patients; defects of lateralization and malformations of organs are often observed. Despite a vivid clinical picture, the disease is not always timely diagnosed, which leads to a rapid decrease in pulmonary function, often to unnecessary surgical interventions. The purpose of this article is to familiarize a wide range of pediatricians and pulmonologists with modern methods of diagnostics and therapy of primary ciliary dyskinesia.
About the Authors
A. E. Bogorad
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
S. E. Diakova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
Yu. L. Mizernitsky
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Bogorad A.E., Diakova S.E., Mizernitsky Yu.L. Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):123-133. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-123-133
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