Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.

Abstract

To assess the prevalence, predictors, and course of bronchiectasis in patients with cartilage-hair hypoplasia. Patients who had undergone high-resolution computed tomography of the lungs or bronchography were included in the study. Hospital records were coorelated for clinical features, respiratory symptoms, and laboratory variables. Imaging studies were correlated for changes suggestive of bronchiectasis and findings correlated with clinical and immunological measurements. The study included 15 patients (5 male; median height Z-score, -7.7) aged from 2 to 39 years (median, 10 years). Cell-mediated immunity was impaired in 79% of the subjects, and humoral immunity was impaired in 71% of the subjects. 8 patients (52%) had bronchiectasis, diagnosed by means of high-resolution computed tomography (n = 6) or bronchography (n = 2). The findings ranged from localized mild dilatation of the airways to severe bronchiectasis with saccular airway dilatation. Bronchiectasis progressed during follow-up in 2 patients. Patients with bronchiectasis tended to have more severe growth failure and more often had defective humoral immunity than the general cartilage-hair hypoplasia population. Patients with cartilage-hair hypoplasia are at risk of the development of bronchiectasis.