Characteristics of adults with primary ciliary dyskinesia in a bronchiectasis referral clinic

Background: Primary ciliary dyskinesia (PCD) is a recognized etiology of bronchiectasis. When there are incomplete clinical features, the diagnosis may be delayed. Recent guidelines allow more patients with incomplete phenotypes to be diagnosed. Aims: To describe the clinical, microbiologic and radiologic features of adults diagnosed with PCD and compare them to adults with bronchiectasis of other etiologies. Methods: Retrospective study of patients in an adult bronchiectasis service. Etiologic workup included nasal NO and/ or nasal brush biopsy for electron microscopy (EM) in patients with clinical features consistent with PCD. Results: Out of two hundred twenty patients with bronchiectasis, fourteen met criteria for PCD. The mean age at diagnosis was 32.8±13 years while the age at onset of symptoms was 8.9 ±19 years. All patients had bronchiectasis and sino- nasal disease. Six men (100%) had sperm dysmotility. Eight (57%) had a history of recurrent ear infection. Two had situs inversus (14%). Seven (50%) had a family history of laterality defects, or consanguinity. PCD patients had low nasal NO (7 patients of 8 tested- 88%), and pathologic EM findings (5 of 10 tested- 50%). Lung function (FEV1) of patients with PCD was lower than in other etiologies (60±24 vs. 80±26 % predicted, p=0.008), despite younger age. Reiff CT score was worse for PCD patients- 11.2±4.4 vs. 7.9±4.3, p=0.02. There were no differences in exacerbations and bacteria in sputum. Conclusions: Diagnosis of PCD in adults is often delayed, most probably due to partial clinical and laboratory features. Earlier diagnosis and treatment may prevent the radiologic and physiological deterioration.