Toiviainen-Salo Sanna, Kajosaari Merja, Piilonen Anneli, Mäkitie Outi
Helsinki Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.
J Pediatr. 2008 Mar;152(3):422-8. doi: 10.1016/j.jpeds.2007.11.040.
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.
评估软骨毛发发育不全患者支气管扩张的患病率、预测因素及病程。
纳入接受过肺部高分辨率计算机断层扫描或支气管造影的患者。对医院记录中的临床特征、呼吸道症状和实验室变量进行关联分析。对影像学研究中提示支气管扩张的变化以及与临床和免疫学测量相关的结果进行关联分析。
该研究纳入了15例年龄在2至39岁（中位数为10岁）的患者（5例男性；身高Z评分中位数为-7.7）。79%的受试者细胞介导免疫受损，71%的受试者体液免疫受损。8例患者（52%）被诊断为支气管扩张，诊断方法为高分辨率计算机断层扫描（n = 6）或支气管造影（n = 2）。结果从气道局部轻度扩张到伴有囊状气道扩张的严重支气管扩张不等。2例患者在随访期间支气管扩张病情进展。与一般软骨毛发发育不全人群相比，支气管扩张患者往往有更严重的生长发育迟缓，且体液免疫缺陷更为常见。
软骨毛发发育不全患者有发生支气管扩张的风险。
