Progress on primary ciliary dyskinesia
10.3760/cma.j.issn.1673-4408.2024.06.004
- VernacularTitle:原发性纤毛运动障碍研究进展
- Author:
Qian ZHANG
1
;
Kexing CHEN
;
Ran XU
Author Information
1. 四川大学华西第二医院急诊医学科 出生缺陷与相关妇女疾病教育部重点实验室（四川大学），成都 610041
- Keywords:
Primary ciliary dyskinesia;
Clinical phenotype;
Genotype
- From:
International Journal of Pediatrics
2024;51(6):373-376
- CountryChina
- Language:Chinese
-
Abstract:
Primary ciliary dyskinesia（PCD）is a genetic disease characterized by abnormal ciliary structure and function，with respiratory symptoms being the main clinical manifestation of PCD.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.
