原发性纤毛运动障碍研究进展
Progress on primary ciliary dyskinesia
张倩 1陈可星 1徐冉1
作者信息
- 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
- 折叠
摘要
原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)是一种以纤毛结构和功能异常为特征的遗传病,呼吸系统症状是PCD主要的临床表现.基因突变导致呼吸道与其他器官的运动型纤毛发生不同严重程度的结构或运动功能障碍,从而发展成一系列异质性的临床表现,对PCD的早期识别和诊断造成了一定的困难.综合使用不同的疾病筛查工具,理解基因型和表型的关联及相关机制有利于PCD患者的早期诊治.
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.
关键词
原发性纤毛运动障碍/临床表型/基因型Key words
Primary ciliary dyskinesia/Clinical phenotype/Genotype引用本文复制引用
出版年
2024
NETL
NSTL
万方数据