Advances in diagnostic approaches for primary ciliary dyskinesia in children
10.3760/cma.j.cn101070-20240829-00549
- VernacularTitle:儿童原发性纤毛运动障碍诊断方法研究进展
- Author:
Hao WANG
1
;
Baoping XU
1
Author Information
1. 国家儿童医学中心，国家呼吸系统疾病临床医学研究中心，首都医科大学附属北京儿童医院呼吸科，北京 100045
- Publication Type:Journal Article
- Keywords:
Cilia;
Nasal nitric oxide;
Gene;
Primary ciliary dyskinesia
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(8):633-635
- CountryChina
- Language:Chinese
-
Abstract:
Primary ciliary dyskinesia (PCD) constitutes a group of genetic disorders characterized by structural and/or functional abnormalities of cilia, leading to diverse clinical manifestations.With low prevalence and marked clinical heterogeneity, PCD is prone to underdiagnosis and misdiagnosis.Current diagnostic modalities exhibit intrinsic limitations in PCD confirmation, necessitating comprehensive evaluation and judicious application of multimodal assessments.This review synthesizes recent advances in diagnostic methodologies for PCD.
