原发性纤毛不动综合征是一种少见的遗传异质性疾病，虽然其诊断策略逐渐趋于完善，但仍有不少患者因不 能得到有效的临床管理而导致严重后果。文章综述了原发性纤毛不动综合征患者上、下呼吸道及其他系统临床管理的研 究进展，探索统一有效的管理策略。此外，阿奇霉素、基因治疗有望成为其潜在的治疗方法。

Primary ciliary dyskinesia syndrome (PCD) is a rare genetic disease with high heterogeneity, the diagnostic strategy of PCD is becoming more and more complete. However, the lack of prompt clinical managements for many patients resulted in severe consequences. This article will review on the recent advances of clinical managements of upper and lower respiratory tract and other systems to explore unified and prompt management strategy. In addition, azithromycin and gene editing are promising treatment approaches.