Related Experiment Video
Updated: Apr 16, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Clinical analysis of patients with primary ciliary dyskinesia in mainland China
Yueqin Cao1,2, Changzhou Shao3, Yuanlin Song1
1Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
Background And Aims:
Primary ciliary dyskinesia (PCD) is a rare, genetic disorder featured with dysfunctional motility of cilia. Clinical presentations of PCD include situs inversus, repeated respiratory tract infections, otitis media, sinusitis and infertility. This study aims to provide clinical strategies on diagnosis and treatment of PCD.
Methods:
Clinical data of seven patients diagnosed as PCD in Zhongshan Hospital, Fudan University were analyzed. We also extracted data from other cases in mainland China from the China Academic Journals Full-Text Database by the end of 2012. A total of 127 cases of PCD were summarized and analyzed in this study.
Results:
Seven patients in Zhongshan Hospital, Fudan University were finally confirmed to have PCD. All of them had clinical history of recurrent respiratory infection. Imaging analysis showed varying degrees of bronchiectasis. Pulmonary function tests in four patients showed combined obstructive and restrictive patterns. Three cases were confirmed to have PCD by electron microscopy. We then further extracted information from literature for those 127 PCD patients in mainland China. All of them had chronic respiratory infection. Seven cases were complicated with recurrent otitis media and 15 cases were complicated with infertility. A total of 119 patients were diagnosed with situs inversus totalis (94%). Among those 127 patients, only 9 patients' diagnosis was confirmed by electron microscopy. Four patients received sinus resection, and one patient received pulmonary lobectomy due to recurrent hemoptysis. One patient died of massive hemoptysis.
Conclusions:
Being a rare disease and easily confused with uncomplicated bronchiectasis, PCD diagnosis warrants particular attention. Recurrent respiratory infection, especially situs inversus could be the most important indicator of this disease.
More Related Videos
09:03Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
11:13Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency
Published on: November 10, 2021
Related Concept Videos
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,...
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
Cystic Fibrosis: Management
Sinus disease and chronic...
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...