Diagnostics
Evaluation of Functional Activity of Ciliated Epithelium in Patients with Primary Ciliary Dyskinesia
By Tatiana A. Kyian, Anna G. Demchenko, Olga Solovova and 7 others.
Abstract
Primary ciliary dyskinesia (PCD) is a heterogeneous recessive disorder of cilia that leads to respiratory tract disorders and organ laterality defects.
Objectives
This study was designed to diagnose PCD in patients using various methods: genetic, immunofluorescence, transmission electron microscopy (TEM), and assessment of ciliary beat frequency (CBF) in ALI cultures.
Methods
The study included (n = 35) patients with primary ciliary dyskinesia and (n = 10) healthy controls (HC). The diagnosis of PCD was established using molecular genetic analysis: WES, TEM, immunofluorescence staining of ALI-culture, and high-speed videomicroscopy. Ciliogenesis of ciliated epithelial cells was performed in patients with PCD and HC to improve the diagnosis of PCD.