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

Cilia are minute hairlike structures which sweep the respiratory tract clea n by continuous beating. Ciliary dysfunction can occur which leads to devel opment of bronchiectasis. We describe the clinical and investigation profil es of four patients who had early-onset severe and otherwise idiopathic bro nchiectasis associated with a previously undescribed ciliary defect in whic h numerous cystlike structures are present within the ciliary shafts. The p atients had otherwise normal ciliary microtubular ultrastructure and centra l microtubular orientation. Our newly described ciliary abnormality appears to be a primary defect and more systematic studies should be performed to evaluate this further.