原发性纤毛运动障碍主要诊断方法的研究进展

Main diagnosis methods of primary ciliary dyskinesia

原发性纤毛运动障碍是一种罕见的、高度异质性的常染色体隐性遗传疾病。因编码纤毛成分的基因发生突变,导致纤毛运动障碍,进一步引起人体内与纤毛有关的组织或器官发生功能障碍,临床表现为反复的呼吸道感染、支气管扩张、鼻窦炎、脏器移位、不孕不育等。目前原发性纤毛运动障碍尚无统一的诊断标准。本文就原发性纤毛运动障碍的发病机制、临床表现、诊断及治疗的研究进展作一综述。

Primary ciliary dyskinesia is a very rare and highly genetically heterogeneous disease inherited in autosomal recessive manner mainly. Genes encoding cilia component mutation causes ciliary dyskinesia, leading to cilia related tissue and organ dysfunction in the human body, which is clinically demonstrated by recurrent respiratory infections, bronchiectasis, chronic sinusitis, situs inversus and infertility and so on. There is no uniform diagnostic standard for primary ciliary dyskinesia nowadays. This paper reviews the research progress of the pathogenesis, clinical manifestations, diagnosis and treatment of primary ciliary dyskinesia.