Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, P.O. Box 347, 00029 HUS, Helsinki, Finland.
Institute of Genetics, Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.
J Clin Immunol. 2021 Jul;41(5):1064-1071. doi: 10.1007/s10875-021-01007-5. Epub 2021 Mar 5.
Cartilage-hair hypoplasia is a syndromic immunodeficiency with short stature, chondrodysplasia, and variable degree of immune dysfunction. Patients with cartilage-hair hypoplasia are prone to recurrent respiratory tract infections, and the prevalence of bronchiectasis ranges from 29 to 52%. Pulmonary complications contribute significantly to the mortality; therefore, regular lung imaging is essential. However, the optimal schedule for repeated lung imaging remains unestablished. We determined the rate and correlates of progression of structural lung changes in a prospectively followed cohort of 16 patients with cartilage-hair hypoplasia. We analyzed clinical, laboratory, and pulmonary functional testing data and performed lung magnetic resonance imaging at a median interval of 6.8 years since previous imaging. Imaging findings remained identical or improved due to disappearance of inflammatory changes in all evaluated patients. Patients with subtle signs of bronchiectasis on imaging tended to have low immunoglobulin M levels, as well as suffered from pneumonia during the follow-up. In conclusion, our results suggest slow if any development of bronchiectasis in selected subjects with cartilage-hair hypoplasia.
软骨毛发发育不全是一种综合征性免疫缺陷病，伴有身材矮小、软骨发育不良和不同程度的免疫功能障碍。软骨毛发发育不全患者易发生复发性呼吸道感染，支气管扩张症的患病率为 29%至 52%。肺部并发症对死亡率有显著影响；因此，定期进行肺部影像学检查至关重要。然而，重复肺部影像学检查的最佳时间间隔尚未确定。我们在一个前瞻性随访的软骨毛发发育不全患者队列中确定了结构肺部变化的进展率和相关因素。我们分析了临床、实验室和肺功能检测数据，并在中位数为 6.8 年的时间间隔后进行了肺部磁共振成像。由于所有评估患者的炎症变化消失，因此影像学表现保持相同或改善。影像学上有轻微支气管扩张迹象的患者，其免疫球蛋白 M 水平往往较低，且在随访期间易患肺炎。总之，我们的结果表明，在选择的软骨毛发发育不全患者中，支气管扩张症的发展缓慢。
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