Clinical phenotypes of primary ciliary dyskinesia.
10.11817/j.issn.1672-7347.2022.210379
- Author:
Cheng LEI
1
;
Rongchun WANG
2
;
Danhui YANG
2
;
Ting GUO
2
;
Hong LUO
3
Author Information
1. Department of Pulmonary and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China. leicheng@csu.edu.cn.
2. Department of Pulmonary and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.
3. Department of Pulmonary and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China. luohonghuxi@csu.edu.cn.
- Publication Type:Journal Article
- Keywords:
clinical phenotype;
disease screening;
genotype;
motile ciliopathies;
primary ciliary dyskinesia
- MeSH:
Chronic Disease;
Cilia/pathology*;
Humans;
Kartagener Syndrome/genetics*;
Phenotype;
Sinusitis
- From:
Journal of Central South University(Medical Sciences)
2022;47(1):116-122
- CountryChina
- Language:English
-
Abstract:
Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
