Severe bronchiectasis in patients with 'cystlike' structures within the ciliary shafts

Abstract

Cilia are minute hairlike structures which sweep the respiratory tract clean by continuous beating. Ciliary dysfunction can occur which leads to development of bronchiectasis. We describe the clinical and investigation profiles of four patients who had early-onset severe and otherwise idiopathic bronchiectasis associated with a previously undescribed ciliary defect in which numerous cystlike structures are present within the ciliary shafts. The patients had otherwise normal ciliary microtubular ultrastructure and central microtubular orientation. Our newly described ciliary abnormality appears to be a primary defect and more systematic studies should be performed to evaluate this further.