Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder associated with abnormalities in ciliary structure and function. Here, we report A 22-year-old non-smoking Chinese man with recurrent episodes of respiratory tract infections and sinusitis since high school period. The diagnosis is more complicated by the atypical symptoms and the late age of onset. We summarized the clinical characteristics of this case and literature review. This report aimed to improve the clinical understanding of primary ciliary dyskinesia.
PCD是一种复杂的基因异质性疾病，由于机体纤毛结构及功能障碍导致一系列临床症状，儿科报道较多。本文报道1例22岁男性患者，因近期反复呼吸道感染及鼻窦炎就诊。本例患者发病年龄晚、症状不典型，给诊断带来一定复杂性。本文对该例临床特点进行总结并整理相关文献报道，希望通过该例患者诊疗过程及文献资料，提高临床医师对本病的认识。.