儿童原发性纤毛运动障碍基因型与临床表型 研究进展
Advances in Genotype and Clinical Phenotype of Primary Ciliary Dyskinesia in Children
DOI: 10.12677/acm.2026.1662299, PDF,   
作者: 康子琦：新疆医科大学研究生学院，新疆 乌鲁木齐；马兰红*：呼吸科，新疆维吾尔自治区儿科研究所，新疆维吾尔自治区儿童医院，北京儿童医院新疆医院，新疆维吾尔自治区第七人民医院，新疆 乌鲁木齐
关键词: 原发性纤毛运动障碍；基因型；表型；儿童；中国人群；Primary Ciliary Dyskinesia； Genotype； Phenotype； Children； Chinese Population
摘要: 原发性纤毛运动障碍(PCD)是一种罕见的遗传性运动纤毛病，遗传基础复杂。迄今已发现超过60个致病基因，主要编码纤毛轴丝结构蛋白或参与纤毛组装调控。近年新鉴定的致病基因包括CFAP54、DNAH10、SPEF2和TUBB4B等。基因型–临床表型关联研究显示，CCDC39/CCDC40突变与最严重的肺功能损害相关，而DNAH11和RSPH1突变则呈现温和表型。中国人群的PCD基因谱与欧美存在差异，DNAH11和CCNO比例较高，且新生儿呼吸窘迫及内脏反位发生率较低。基因检测已与透射电子显微镜并列为核心诊断方法，对疾病管理、预后评估及遗传咨询具有重要价值。现对儿童PCD的基因型与临床表型作一综述，以期为临床诊疗提供依据。
Abstract: Primary ciliary dyskinesia (PCD) is a rare hereditary motile ciliopathy with a complex genetic basis. To date, more than 60 disease-causing genes have been identified, which mainly encode axonemal structural proteins of cilia or participate in the regulation of ciliary assembly. Newly identified pathogenic genes in recent years include CFAP54, DNAH10, SPEF2, and TUBB4B. Genotype-phenotype association studies have shown that mutations in CCDC39/CCDC40 are associated with the most severe lung function impairment, whereas mutations in DNAH11 and RSPH1 present with milder phenotypes. The genetic spectrum of PCD in the Chinese population differs from that in European and American populations, with a higher proportion of DNAH11 and CCNO mutations and a lower incidence of neonatal respiratory distress and situs inversus. Genetic testing has become a core diagnostic method alongside transmission electron microscopy, and is of great value for disease management, prognosis assessment, and genetic counseling. This article reviews the genotype and clinical phenotype of PCD in children, aiming to provide a reference for clinical diagnosis and treatment.
文章引用：康子琦, 马兰红. 儿童原发性纤毛运动障碍基因型与临床表型 研究进展[J]. 临床医学进展, 2026, 16(6): 953-965. https://doi.org/10.12677/acm.2026.1662299

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