Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review

BACKGROUND: Fifty percent of patients with primary ciliary dyskinesia (PCD) have situs inversus. Diffuse panbronchiolitis (DPB) might be one of the characteristic features of the lung in PCD. METHODS: We reported a case of PCD without situs inversus, yet complicated with DPB, and did literature review. RESULTS: A 34-year-old nonsmoking Chinese woman with 6-year primary infertility suffered from recurrent episodes of respiratory tract infections since childhood. Lung auscultation revealed end-inspiratory coarse crackles. Pulmonary function tests demonstrated mild obstructive ventilation functional impairment. Lung biopsy showed respiratory bronchiolitis. Nasal mucosa cilia showed the absence of both outer and inner dynein arms of the microtubules. Saccharin test was positive. Chest images showed bronchiectasis and bronchiolitis but no situs inversus. Paranasal sinus computed tomography (CT) showed maxillary sinusitis and ethmoid sinusitis. A culture of bronchoalveolar lavage fluid was positive for Pseudomonas aeruginosa. Her conditions improved in clinical symptoms and CT images after 2 months of treatment with azithromycin. Literature review revealed that very rare patients were diagnosed as PCD complicated with diffuse DPB, and all of them had situs inversus. CONCLUSIONS: The association of DPB might be one of the characteristic features of the lung in PCD. Further studies on the concurrence of these two diseases are suggested so as to elucidate the mechanism of both. Please cite this paper as: Chen W, Shao C, Song Y and Bai C. Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review. Clin Respir J 2014; 8: 425–430.