儿童原发性纤毛运动障碍、囊性纤维化发病机制及基因诊断进展

Research Progress on Pathogenesis and Gene Diagnosis of Primary Ciliary Dyskinesia and Cystic Fibrosis in Children

摘要: 在气道中，纤毛与气道黏液协同作用组成黏液纤毛清除系统清除呼吸道吸入的颗粒和病原体。正常情况下，纤毛通过有节律的摆动，将包裹异物或病原体的黏液排到咽喉部。低渗性黏液的主要作用包括屏障病原体入侵，保证纤毛正常摆动，并且气道黏液的固有免疫能够直接对病原体进行非特异性清除。本文将总结气道黏液纤毛清除的分子和细胞机制，并对其功能障碍导致的先天性疾病如原发性纤毛运动障碍、囊性纤维化的发病机制、基因诊断的最新进展进行综述。

Abstract: In the airway, the cilia work together with airway mucus to form a mucociliary clearance that removes particles and pathogens inhaled by the respiratory tract. Normally, the cilia move in rhythmic movements to expel mucus surrounding a foreign body or pathogen to the throat. The main effects of hypotonic mucus include barrier pathogen invasion, ensuring normal cilia movement, and innate immunity of airway mucus to directly and non-specifically eliminate pathogens. In this review, we will summarize the molecular and cellular mechanisms of ciliary clearance of airway mucus, and review the latest advances in genetic diagnosis of congenital diseases such as primary ciliary movement disorder, and cystic fibrosis caused by its dysfunction.