原发性纤毛运动障碍的临床表型  

Clinical phenotypes of primary ciliary dyskinesia

作　　者：雷诚 王荣春 杨丹晖 郭婷[1] 罗红[1] LEI Cheng;WANG Rongchun;YANG Danhui;GUO Ting;LUO Hong(Department of Pulmonary and Critical Care Medicine,Second Xiangya Hospital,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院呼吸与危重症医学科,长沙410011

出　　处：《中南大学学报（医学版）》2022年第1期116-122,共7页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(81900002,81770002)。

摘　　要：原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)是一种以气道黏液纤毛清除功能障碍为主要表现的遗传性运动型纤毛病。PCD的患病率为1:10000~1:20000。在儿童中与呼吸道相关的主要表现有咳嗽、咳痰、慢性鼻炎、鼻窦炎和分泌性中耳炎,在成人中主要表现为慢性鼻窦炎、支气管扩张症和不孕不育。在某些基因突变的PCD患者中大约50%伴有内脏反位,先天性心脏病的发生率也较高。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。Primary ciliary dyskinesia(PCD)is a hereditary disease characterized by airway mucociliary clearance dysfunction.The estimated prevalence of PCD is 1:10000 to 1:20000.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 PCDrelated 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.

关 键 词：原发性纤毛运动障碍 临床表型 疾病筛查 基因型 运动型纤毛病 

分 类 号：R596.1[医药卫生—内科学]