Primary ciliary dyskinesia :a case report and review of literature

Objective To improve the understanding of clinical and pathological characteristics of primary ciliary dyskinesia (PCD). Methods A case diagnosed with PCD was reported,and the related literatures were reviewed. Results The patient had cough,expectoration,and dyspnea. Chest CT scan showed diffuse nodules and local bronchieclasis. Transbronchial lung biopsy was done and transmission electron microscopy showed ciliary abnormalities and absence of dynein arms. Those findings were consistent with PCD. Conclusions PCD is an inherited disease characterised by functional and/or structural congenital abnormalities of cilia,and is often misdiagnosed. The diagnosis of PCD relies on the analysis of cilium ultrastructure. There is no specific therapy for PCD,and symptomatic treatment is recommended. Key words: Primary ciliary dyskinesia ; Inherited disease;  Ultrastructure