Primary ciliary dyskinesia and upper airway diseases
Related Experiment Video
Updated: Jul 19, 2026

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
Marcus P Kennedy1, Lawrence E Ostrowski
1Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina, School of Medicine, 6125 Thurston Bowles Building, Chapel Hill, NC 27599, USA.
Abstract:
Primary ciliary dyskinesia (PCD) is a rare and difficult-to-diagnose disease with morbidity related to infections of the upper and lower respiratory tract. The disease is caused by mutations in genes that are required for proper ciliary function. The defect in ciliary function results in reduced or absent mucociliary clearance, thereby predisposing the affected individual to repeated bacterial infections. Recent advances in the understanding of the basic biology and function of the cilium have led to the identification of some of the genes that are mutated in cases of PCD. Further studies of this disease will likely lead to earlier diagnosis, better treatment, and improved outcomes.
Related Concept Videos
Chronic Obstructive Pulmonary Disease I: Introduction
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
Common Respiratory Disorders
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Inflammation
Chronic Obstructive Pulmonary Disease-I: Introduction
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

